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dbVar

Database of genomic structural variation

nsv6503336

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:38,600

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: 700 SVs from 64 studies. See in: genome view

Submitted genomic36,190,801-36,229,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6503336	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	36,190,801	36,229,400
nsv6503336	Remapped	Perfect	GRCh37.p13	PATCHES	Second Pass	NW_003315949.1	Chr17\|NW_0 03315949.1	75,557	114,156

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18189689	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18189689	Submitted genomic		NC_000017.11:g.361 90801_36229400dup	GRCh38 (hg38)		NC_000017.11	Chr17	36,190,801	36,229,400
nssv18189689	Remapped	Perfect	NW_003315949.1:g.7 5557_114156dup	GRCh37.p13	Second Pass	NW_003315949.1	Chr17\|NW_0 03315949.1	75,557	114,156

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)
nssv18189689	0.355	11541	32520

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