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dbVar

Database of genomic structural variation

nsv6354339

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:6,500

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: 137 SVs from 34 studies. See in: genome view

Submitted genomic206,796,501-206,803,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6354339	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	206,796,501	206,803,000
nsv6354339	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	207,661,225	207,667,724

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18208102	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18208102	Submitted genomic		NC_000002.12:g.206 796501_206803000du p	GRCh38 (hg38)		NC_000002.12	Chr2	206,796,501	206,803,000
nssv18208102	Remapped	Perfect	NC_000002.11:g.207 661225_207667724du p	GRCh37.p13	First Pass	NC_000002.11	Chr2	207,661,225	207,667,724

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)
nssv18208102	0.006	245	39164

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