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dbVar

Database of genomic structural variation

nsv6400023

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:92,395

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: 2766 SVs from 104 studies. See in: genome view

Submitted genomic31,252,807-31,345,201

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6400023	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	31,252,807	31,345,201
nsv6400023	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,220,584	31,312,978

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18231847	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18231847	Submitted genomic		NC_000006.12:g.312 52807_31345201dup	GRCh38 (hg38)		NC_000006.12	Chr6	31,252,807	31,345,201
nssv18231847	Remapped	Perfect	NC_000006.11:g.312 20584_31312978dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,220,584	31,312,978

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)
nssv18231847	<0.001	5	29886

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