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dbVar

Database of genomic structural variation

nsv6345985

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:47,730

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: 344 SVs from 36 studies. See in: genome view

Submitted genomic47,329,528-47,377,257

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6345985	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	47,329,528	47,377,257
nsv6345985	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	47,556,667	47,604,396

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18209826	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18209826	Submitted genomic		NC_000002.12:g.473 29528_47377257dup	GRCh38 (hg38)		NC_000002.12	Chr2	47,329,528	47,377,257
nssv18209826	Remapped	Perfect	NC_000002.11:g.475 56667_47604396dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	47,556,667	47,604,396

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)
nssv18209826	<0.001	1	39294

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