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dbVar

Database of genomic structural variation

nsv482237

Organism: Homo sapiens

Study:nstd40 (Sharp et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:6,667,011

Description:dup 6q27-qter, del 11q25-qter; The breakpoints of this variant are not well localised. This CNV may have large blocks of segmental duplication at the flanks which are polymorphic and make it near-impossible to say exactly where the breaks are.
Publication(s):Sharp et al. 2006

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 27157 SVs from 132 studies. See in: genome view

Remapped(Score: Good):164,078,969-170,745,979

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nsv482237	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	164,078,969	170,745,979	-
nsv482237	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	130,930,106	135,076,622	-
nsv482237	Submitted cytogenetic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	164,500,001	-	171,115,067
nsv482237	Submitted cytogenetic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	130,800,001	-	135,006,516

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv3021972	copy number gain	IMR213	BAC aCGH	Probe signal intensity	Intellectual Disability	Uncertain significance	Submitter	nssv3021975
nssv3021975	copy number loss	IMR213	BAC aCGH	Probe signal intensity	Intellectual Disability	Uncertain significance	Submitter	nssv3021972

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nssv3021972	Remapped	Good	NC_000006.12:g.(16 4078969_?)_(170745 979_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	164,078,969	170,745,979	-
nssv3021975	Remapped	Good	NC_000011.10:g.(13 0930106_?)_(135076 622_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	130,930,106	135,076,622	-
nssv3021972	Submitted cytogenetic		NC_000006.11:g.(16 4500001_?)_(?_1711 15067)dup	GRCh37 (hg19)		NC_000006.11	Chr6	164,500,001	-	171,115,067
nssv3021975	Submitted cytogenetic		NC_000011.9:g.(130 800001_?)_(?_13500 6516)del	GRCh37 (hg19)		NC_000011.9	Chr11	130,800,001	-	135,006,516

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv3021972	IMR213	GRCh37: NC_000006.11:g.(164500001_?)_(?_171115067)dup	copy number gain	Intellectual Disability	Uncertain significance	Submitter	nssv3021975
nssv3021975	IMR213	GRCh37: NC_000011.9:g.(130800001_?)_(?_135006516)del	copy number loss	Intellectual Disability	Uncertain significance	Submitter	nssv3021972

No genotype data were submitted for this variant

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