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

dbVar

Database of genomic structural variation

nsv3329660

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:14,242

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: 228 SVs from 54 studies. See in: genome view

Submitted genomic98,928,059-98,942,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3329660	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	98,928,059	98,942,300
nsv3329660	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	100,687,816	100,702,057

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14495543	deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14503142	deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14495543	Submitted genomic		NC_000010.11:g.989 28059_98942300del	GRCh38 (hg38)		NC_000010.11	Chr10	98,928,059	98,942,300
nssv14503142	Submitted genomic		NC_000010.11:g.989 28059_98942300del	GRCh38 (hg38)		NC_000010.11	Chr10	98,928,059	98,942,300
nssv14495543	Remapped	Perfect	NC_000010.10:g.100 687816_100702057de lNC_000010.10:g.10 0687816_100702057d el	GRCh37.p13	First Pass	NC_000010.10	Chr10	100,687,816	100,702,057
nssv14503142	Remapped	Perfect	NC_000010.10:g.100 687816_100702057de lNC_000010.10:g.10 0687816_100702057d el	GRCh37.p13	First Pass	NC_000010.10	Chr10	100,687,816	100,702,057

Showing 4 of 6

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