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dbVar

Database of genomic structural variation

nsv4269019

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:452,084

Publication(s):gnomAD_Structural_Variants

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: 600 SVs from 20 studies. See in: genome view

Remapped(Score: Good):8,688,936-9,141,019

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4269019	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	8,688,936	9,141,019
nsv4269019	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000019.9	Chr19	8,799,185	9,251,695

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15842027	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15842027	Remapped	Good	NC_000019.10:g.868 8936_9141019del	GRCh38.p12	First Pass	NC_000019.10	Chr19	8,688,936	9,141,019
nssv15842027	Submitted genomic		NC_000019.9:g.8799 185_9251695del	GRCh37.p13		NC_000019.9	Chr19	8,799,185	9,251,695

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)
nssv15842027	4.6e-005	1	21694

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