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

dbVar

Database of genomic structural variation

nsv6272381

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:55

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: 175 SVs from 28 studies. See in: genome view

Submitted genomic83,814,153-83,814,207

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6272381	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	83,814,153	83,814,207
nsv6272381	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	83,847,758	83,847,812

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17939391	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17939391	Submitted genomic		NC_000016.10:g.838 14153_83814207del	GRCh38 (hg38)		NC_000016.10	Chr16	83,814,153	83,814,207
nssv17939391	Remapped	Perfect	NC_000016.9:g.8384 7758_83847812del	GRCh37.p13	First Pass	NC_000016.9	Chr16	83,847,758	83,847,812

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)
nssv17939391	<0.001	1	2342

You are here: NCBI