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

dbVar

Database of genomic structural variation

nsv5590869

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:210

Publication(s):Ebert et al. 2021

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: 143 SVs from 43 studies. See in: genome view

Submitted genomic23,462,701-23,462,910

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5590869	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	23,462,701	23,462,910
nsv5590869	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	23,474,022	23,474,231

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17093008	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17093008	Submitted genomic		NC_000016.10:g.234 62701_23462910delA	GRCh38 (hg38)		NC_000016.10	Chr16	23,462,701	23,462,910
nssv17093008	Remapped	Perfect	NC_000016.9:g.2347 4022_23474231delA	GRCh37.p13	First Pass	NC_000016.9	Chr16	23,474,022	23,474,231

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI