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dbVar

Database of genomic structural variation

nsv6271729

Organism: Homo sapiens

Study:nstd214 (Naslavsky 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:106

Publication(s):Naslavsky 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: 106 SVs from 27 studies. See in: genome view

Submitted genomic10,764,742-10,764,847

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6271729	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	10,764,742	10,764,847
nsv6271729	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	10,858,599	10,858,704

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17927727	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17927727	Submitted genomic		NC_000016.10:g.107 64742_10764847del	GRCh38 (hg38)		NC_000016.10	Chr16	10,764,742	10,764,847
nssv17927727	Remapped	Perfect	NC_000016.9:g.1085 8599_10858704del	GRCh37.p13	First Pass	NC_000016.9	Chr16	10,858,599	10,858,704

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)
nssv17927727	<0.001	1	2240

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