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

dbVar

Database of genomic structural variation

nsv3372841

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:10,938

Publication(s):Audano et al. 2019

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: 377 SVs from 66 studies. See in: genome view

Submitted genomic54,030,527-54,041,464

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3372841	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	54,030,527	54,041,464
nsv3372841	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	52,647,066	52,658,003

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14634669	deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14635999	deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14636326	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14634669	Submitted genomic		NC_000020.11:g.540 30527_54041464del	GRCh38 (hg38)		NC_000020.11	Chr20	54,030,527	54,041,464
nssv14635999	Submitted genomic		NC_000020.11:g.540 30527_54041464del	GRCh38 (hg38)		NC_000020.11	Chr20	54,030,527	54,041,464
nssv14636326	Submitted genomic		NC_000020.11:g.540 30527_54041464del	GRCh38 (hg38)		NC_000020.11	Chr20	54,030,527	54,041,464
nssv14634669	Remapped	Perfect	NC_000020.10:g.526 47066_52658003delN C_000020.10:g.5264 7066_52658003del	GRCh37.p13	First Pass	NC_000020.10	Chr20	52,647,066	52,658,003
nssv14635999	Remapped	Perfect	NC_000020.10:g.526 47066_52658003delN C_000020.10:g.5264 7066_52658003del	GRCh37.p13	First Pass	NC_000020.10	Chr20	52,647,066	52,658,003
nssv14636326	Remapped	Perfect	NC_000020.10:g.526 47066_52658003delN C_000020.10:g.5264 7066_52658003del	GRCh37.p13	First Pass	NC_000020.10	Chr20	52,647,066	52,658,003

Showing 6 of 9

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