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

dbVar

Database of genomic structural variation

nsv6325595

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:704

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: 118 SVs from 31 studies. See in: genome view

Submitted genomic156,702,223-156,702,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6325595	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	156,702,223	156,702,926
nsv6325595	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	156,672,015	156,672,718

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18052282	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18052282	Submitted genomic		NC_000001.11:g.156 702223_156702926de l	GRCh38 (hg38)		NC_000001.11	Chr1	156,702,223	156,702,926
nssv18052282	Remapped	Perfect	NC_000001.10:g.156 672015_156672718de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	156,672,015	156,672,718

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)
nssv18052282	0.004	130	34422

You are here: NCBI