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dbVar

Database of genomic structural variation

nsv6328837

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:17,018

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: 686 SVs from 83 studies. See in: genome view

Submitted genomic196,925,456-196,942,473

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6328837	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	196,925,456	196,942,473
nsv6328837	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	196,894,586	196,911,603

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18056342	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18056342	Submitted genomic		NC_000001.11:g.196 925456_196942473de l	GRCh38 (hg38)		NC_000001.11	Chr1	196,925,456	196,942,473
nssv18056342	Remapped	Perfect	NC_000001.10:g.196 894586_196911603de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	196,894,586	196,911,603

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)
nssv18056342	<0.001	1	37414

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