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dbVar

Database of genomic structural variation

nsv499366

Organism: Homo sapiens

Study:nstd47 (Kidd et al. 2010b)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,054

Publication(s):Kidd et al. 2010

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: 1052 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):1,288,200-1,290,253

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv499366	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,288,200	1,290,253
nsv499366	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	1,223,580	1,225,633
nsv499366	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	1,213,443	1,215,496

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv585600	copy number gain	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv585600	Remapped	Perfect	NC_000001.11:g.128 8200_1290253dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,288,200	1,290,253
nssv585600	Remapped	Perfect	NC_000001.10:g.122 3580_1225633dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	1,223,580	1,225,633
nssv585600	Submitted genomic		NC_000001.9:g.1213 443_1215496dup	NCBI36 (hg18)		NC_000001.9	Chr1	1,213,443	1,215,496

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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