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dbVar

Database of genomic structural variation

nsv6993261

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:18,750

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: 232 SVs from 42 studies. See in: genome view

Submitted genomic83,808,389-83,827,138

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6993261	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	83,808,389	83,827,138
nsv6993261	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	83,841,994	83,860,743

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18403618	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
nssv18403618	Submitted genomic		NC_000016.10:g.838 08389_83827138del	GRCh38 (hg38)		NC_000016.10	Chr16	83,808,389	83,827,138
nssv18403618	Remapped	Perfect	NC_000016.9:g.8384 1994_83860743del	GRCh37.p13	First Pass	NC_000016.9	Chr16	83,841,994	83,860,743

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)
nssv18403618	<0.001	53	275516

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