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dbVar

Database of genomic structural variation

nsv499514

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:4,352

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: 583 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):253,665-258,016

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv499514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	253,665	258,016
nsv499514	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004070872.2	Chr17\|NW_0 04070872.2	193,663	198,014
nsv499514	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	103,456	107,807

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv585607	copy number gain	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv585607	Remapped	Perfect	NC_000017.11:g.253 665_258016dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	253,665	258,016
nssv585607	Remapped	Perfect	NW_004070872.2:g.1 93663_198014dup	GRCh37.p13	First Pass	NW_004070872.2	Chr17\|NW_0 04070872.2	193,663	198,014
nssv585607	Submitted genomic		NC_000017.9:g.1034 56_107807dup	NCBI36 (hg18)		NC_000017.9	Chr17	103,456	107,807

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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