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dbVar

Database of genomic structural variation

nsv6414887

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:8,191

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: 124 SVs from 31 studies. See in: genome view

Submitted genomic21,496,270-21,504,460

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6414887	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	21,496,270	21,504,460
nsv6414887	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	21,496,501	21,504,691

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18139989	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18139989	Submitted genomic		NC_000006.12:g.214 96270_21504460del	GRCh38 (hg38)		NC_000006.12	Chr6	21,496,270	21,504,460
nssv18139989	Remapped	Perfect	NC_000006.11:g.214 96501_21504691del	GRCh37.p13	First Pass	NC_000006.11	Chr6	21,496,501	21,504,691

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)
nssv18139989	<0.001	16	39178

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