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dbVar

Database of genomic structural variation

nsv6400898

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:47,359

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: 322 SVs from 64 studies. See in: genome view

Submitted genomic29,102,006-29,149,364

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6400898	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	29,102,006	29,149,364
nsv6400898	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	29,069,783	29,117,141

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18228331	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18228331	Submitted genomic		NC_000006.12:g.291 02006_29149364dup	GRCh38 (hg38)		NC_000006.12	Chr6	29,102,006	29,149,364
nssv18228331	Remapped	Perfect	NC_000006.11:g.290 69783_29117141dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	29,069,783	29,117,141

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)
nssv18228331	<0.001	2	39174

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