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dbVar

Database of genomic structural variation

nsv6274308

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:276

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: 82 SVs from 26 studies. See in: genome view

Submitted genomic12,261,565-12,261,840

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6274308	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	12,261,565	12,261,840
nsv6274308	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	12,355,422	12,355,697

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17938912	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17938912	Submitted genomic		NC_000016.10:g.122 61565_12261840del	GRCh38 (hg38)		NC_000016.10	Chr16	12,261,565	12,261,840
nssv17938912	Remapped	Perfect	NC_000016.9:g.1235 5422_12355697del	GRCh37.p13	First Pass	NC_000016.9	Chr16	12,355,422	12,355,697

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)
nssv17938912	0.006	13	2258

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