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dbVar

Database of genomic structural variation

nsv6514521

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:74,400

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: 469 SVs from 61 studies. See in: genome view

Submitted genomic36,453,901-36,528,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6514521	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	36,453,901	36,528,300
nsv6514521	Remapped	Good	GRCh37.p13	PATCHES	First Pass	NW_003315949.1	Chr17\|NW_0 03315949.1	338,651	413,048

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18193680	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18193680	Submitted genomic		NC_000017.11:g.364 53901_36528300dup	GRCh38 (hg38)		NC_000017.11	Chr17	36,453,901	36,528,300
nssv18193680	Remapped	Good	NW_003315949.1:g.3 38651_413048dup	GRCh37.p13	First Pass	NW_003315949.1	Chr17\|NW_0 03315949.1	338,651	413,048

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)
nssv18193680	0.003	112	39284

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