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dbVar

Database of genomic structural variation

nsv6327245

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:6,200

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: 475 SVs from 76 studies. See in: genome view

Submitted genomic161,644,401-161,650,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6327245	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	161,644,401	161,650,600
nsv6327245	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	161,614,191	161,620,390

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18201882	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18201882	Submitted genomic		NC_000001.11:g.161 644401_161650600du p	GRCh38 (hg38)		NC_000001.11	Chr1	161,644,401	161,650,600
nssv18201882	Remapped	Perfect	NC_000001.10:g.161 614191_161620390du p	GRCh37.p13	First Pass	NC_000001.10	Chr1	161,614,191	161,620,390

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)
nssv18201882	0.073	2574	35434

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