Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4417940

Organism: Homo sapiens

Study:nstd174 (DGV Gold Standard)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:335,122

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: 862 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):54,569,291-54,904,412

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4417940	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	54,569,291	54,569,385	54,901,822	54,904,412
nsv4417940	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	55,143,426	55,143,520	55,475,957	55,478,547

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15720553	copy number loss	Multiple	Multiple

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15720553	Remapped	Perfect	NC_000013.11:g.(54 569291_54569385)_( 54901822_54904412) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	54,569,291	54,569,385	54,901,822	54,904,412
nssv15720553	Submitted genomic		NC_000013.10:g.(55 143426_55143520)_( 55475957_55478547) del	GRCh37 (hg19)		NC_000013.10	Chr13	55,143,426	55,143,520	55,475,957	55,478,547

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

You are here: NCBI