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dbVar

Database of genomic structural variation

nsv6206104

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:62

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: 107 SVs from 27 studies. See in: genome view

Submitted genomic16,153,532-16,153,593

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6206104	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	16,153,532	16,153,593
nsv6206104	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	16,264,342	16,264,403

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17951636	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17951636	Submitted genomic		NC_000019.10:g.161 53532_16153593del	GRCh38 (hg38)		NC_000019.10	Chr19	16,153,532	16,153,593
nssv17951636	Remapped	Perfect	NC_000019.9:g.1626 4342_16264403del	GRCh37.p13	First Pass	NC_000019.9	Chr19	16,264,342	16,264,403

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)
nssv17951636	0.026	58	2238

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