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

dbVar

Database of genomic structural variation

nsv5498213

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:66

Publication(s):Byrska-Bishop et al. 2022

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: 154 SVs from 29 studies. See in: genome view

Submitted genomic35,090,376-35,090,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5498213	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	35,090,376	35,090,441
nsv5498213	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	35,559,582	35,559,647

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17695535	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17695535	Submitted genomic		NC_000014.9:g.3509 0376_35090441del	GRCh38 (hg38)		NC_000014.9	Chr14	35,090,376	35,090,441
nssv17695535	Remapped	Perfect	NC_000014.8:g.3555 9582_35559647del	GRCh37.p13	First Pass	NC_000014.8	Chr14	35,559,582	35,559,647

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17695535	<0.001	2	6404

You are here: NCBI