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dbVar

Database of genomic structural variation

nsv6414809

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:86,400

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: 1241 SVs from 99 studies. See in: genome view

Submitted genomic31,412,001-31,498,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6414809	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	31,412,001	31,498,400
nsv6414809	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,379,778	31,466,177

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18142105	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18142105	Submitted genomic		NC_000006.12:g.314 12001_31498400del	GRCh38 (hg38)		NC_000006.12	Chr6	31,412,001	31,498,400
nssv18142105	Remapped	Perfect	NC_000006.11:g.313 79778_31466177del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,379,778	31,466,177

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)
nssv18142105	0.001	44	38350

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