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dbVar

Database of genomic structural variation

nsv5510644

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:502

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

Submitted genomic49,821,001-49,821,502

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5510644	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	49,821,001	49,821,502
nsv5510644	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	50,287,719	50,288,220

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17696672	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17696672	Submitted genomic		NC_000014.9:g.4982 1001_49821502del	GRCh38 (hg38)		NC_000014.9	Chr14	49,821,001	49,821,502
nssv17696672	Remapped	Perfect	NC_000014.8:g.5028 7719_50288220del	GRCh37.p13	First Pass	NC_000014.8	Chr14	50,287,719	50,288,220

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)
nssv17696672	0.779	4989	6404

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