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

dbVar

Database of genomic structural variation

nsv3407343

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:13,329

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: 565 SVs from 86 studies. See in: genome view

Submitted genomic134,100,249-134,113,577

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3407343	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	134,100,249	134,113,577
nsv3407343	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	133,785,002	133,798,330

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14754291	deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14754913	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14759524	deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14763126	deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14765072	deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14754291	Submitted genomic		NC_000007.14:g.134 100249_134113577de l	GRCh38 (hg38)		NC_000007.14	Chr7	134,100,249	134,113,577
nssv14754913	Submitted genomic		NC_000007.14:g.134 100249_134113577de l	GRCh38 (hg38)		NC_000007.14	Chr7	134,100,249	134,113,577
nssv14759524	Submitted genomic		NC_000007.14:g.134 100249_134113577de l	GRCh38 (hg38)		NC_000007.14	Chr7	134,100,249	134,113,577
nssv14763126	Submitted genomic		NC_000007.14:g.134 100249_134113577de l	GRCh38 (hg38)		NC_000007.14	Chr7	134,100,249	134,113,577
nssv14765072	Submitted genomic		NC_000007.14:g.134 100249_134113577de l	GRCh38 (hg38)		NC_000007.14	Chr7	134,100,249	134,113,577
nssv14754291	Remapped	Perfect	NC_000007.13:g.133 785002_133798330de lNC_000007.13:g.13 3785002_133798330d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	133,785,002	133,798,330
nssv14754913	Remapped	Perfect	NC_000007.13:g.133 785002_133798330de lNC_000007.13:g.13 3785002_133798330d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	133,785,002	133,798,330
nssv14759524	Remapped	Perfect	NC_000007.13:g.133 785002_133798330de lNC_000007.13:g.13 3785002_133798330d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	133,785,002	133,798,330
nssv14763126	Remapped	Perfect	NC_000007.13:g.133 785002_133798330de lNC_000007.13:g.13 3785002_133798330d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	133,785,002	133,798,330
nssv14765072	Remapped	Perfect	NC_000007.13:g.133 785002_133798330de lNC_000007.13:g.13 3785002_133798330d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	133,785,002	133,798,330

Showing 10 of 15

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