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dbVar

Database of genomic structural variation

nsv6331016

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:234,400

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: 1123 SVs from 77 studies. See in: genome view

Submitted genomic15,678,201-15,912,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6331016	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	15,678,201	15,912,600
nsv6331016	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	16,004,696	16,239,095

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18200929	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18200929	Submitted genomic		NC_000001.11:g.156 78201_15912600dup	GRCh38 (hg38)		NC_000001.11	Chr1	15,678,201	15,912,600
nssv18200929	Remapped	Perfect	NC_000001.10:g.160 04696_16239095dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	16,004,696	16,239,095

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)
nssv18200929	<0.001	2	29380

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