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dbVar

Database of genomic structural variation

nsv6280739

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:74

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: 95 SVs from 25 studies. See in: genome view

Submitted genomic44,488,157-44,488,230

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6280739	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	44,488,157	44,488,230
nsv6280739	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	44,992,369	44,992,437

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17940834	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17940834	Submitted genomic		NC_000019.10:g.444 88157_44488230del	GRCh38 (hg38)		NC_000019.10	Chr19	44,488,157	44,488,230
nssv17940834	Remapped	Pass	NC_000019.9:g.4499 2369_44992437del	GRCh37.p13	First Pass	NC_000019.9	Chr19	44,992,369	44,992,437

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)
nssv17940834	0.01	18	1792

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