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dbVar

Database of genomic structural variation

nsv5520458

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop 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:1,839

Publication(s):Byrska-Bishop 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: 113 SVs from 28 studies. See in: genome view

Submitted genomic12,696,723-12,698,561

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5520458	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	12,696,723	12,698,561
nsv5520458	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	12,790,580	12,792,418

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17707909	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17707909	Submitted genomic		NC_000016.10:g.126 96723_12698561del	GRCh38 (hg38)		NC_000016.10	Chr16	12,696,723	12,698,561
nssv17707909	Remapped	Perfect	NC_000016.9:g.1279 0580_12792418del	GRCh37.p13	First Pass	NC_000016.9	Chr16	12,790,580	12,792,418

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)
nssv17707909	0.002	13	6404

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