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dbVar

Database of genomic structural variation

nsv6689645

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:26

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: 128 SVs from 19 studies. See in: genome view

Submitted genomic191,052,671-191,052,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6689645	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	191,052,671	191,052,696
nsv6689645	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	191,917,397	191,917,422

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18447095	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18447095	Submitted genomic		NC_000002.12:g.191 052671_191052696de l	GRCh38 (hg38)		NC_000002.12	Chr2	191,052,671	191,052,696
nssv18447095	Remapped	Perfect	NC_000002.11:g.191 917397_191917422de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	191,917,397	191,917,422

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)
nssv18447095	0.028	6359	227376

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