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

dbVar

Database of genomic structural variation

nsv6324701

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:1,175

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: 129 SVs from 30 studies. See in: genome view

Submitted genomic155,020,903-155,022,077

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6324701	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	155,020,903	155,022,077
nsv6324701	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	154,993,379	154,994,553

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18052053	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18052053	Submitted genomic		NC_000001.11:g.155 020903_155022077de l	GRCh38 (hg38)		NC_000001.11	Chr1	155,020,903	155,022,077
nssv18052053	Remapped	Perfect	NC_000001.10:g.154 993379_154994553de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	154,993,379	154,994,553

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)
nssv18052053	0.003	122	39122

You are here: NCBI