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dbVar

Database of genomic structural variation

nsv471451

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:37,113

Description:RASA4
Publication(s):Alkan et al. 2009

Links to Other Resources

Overlapping Genes

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: 521 SVs from 67 studies. See in: genome view

Remapped(Score: Good):102,579,646-102,616,758

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nsv471451	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	102,579,646	-	102,616,758
nsv471451	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	-	102,229,277	102,257,205
nsv471451	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000007.11	Chr7	101,813,883	-	101,851,140

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548313	copy number gain	JDW	Sequencing	Read depth	7	198
nssv548314	copy number gain	NA18507	Sequencing	Read depth	6	208
nssv548315	copy number gain	YH	Sequencing	Read depth	8	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nssv548313	Remapped	Good	NC_000007.14:g.(10 2579646_?)_(?_1026 16758)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,579,646	-	102,616,758
nssv548314	Remapped	Good	NC_000007.14:g.(10 2579646_?)_(?_1026 16758)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,579,646	-	102,616,758
nssv548315	Remapped	Good	NC_000007.14:g.(10 2579646_?)_(?_1026 16758)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,579,646	-	102,616,758
nssv548313	Remapped	Pass	NC_000007.13:g.(?_ 102229277)_(?_1022 57205)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	-	102,229,277	102,257,205
nssv548314	Remapped	Pass	NC_000007.13:g.(?_ 102229277)_(?_1022 57205)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	-	102,229,277	102,257,205
nssv548315	Remapped	Pass	NC_000007.13:g.(?_ 102229277)_(?_1022 57205)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	-	102,229,277	102,257,205
nssv548313	Submitted genomic		NC_000007.11:g.(10 1813883_?)_(?_1018 51140)dup	NCBI35 (hg17)		NC_000007.11	Chr7	101,813,883	-	101,851,140
nssv548314	Submitted genomic		NC_000007.11:g.(10 1813883_?)_(?_1018 51140)dup	NCBI35 (hg17)		NC_000007.11	Chr7	101,813,883	-	101,851,140
nssv548315	Submitted genomic		NC_000007.11:g.(10 1813883_?)_(?_1018 51140)dup	NCBI35 (hg17)		NC_000007.11	Chr7	101,813,883	-	101,851,140

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548313	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548314	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548315	4	YH	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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