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dbVar

Database of genomic structural variation

nsv6495692

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:284,069

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: 1310 SVs from 81 studies. See in: genome view

Submitted genomic36,168,964-36,453,032

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6495692	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	36,168,964	36,453,032
nsv6495692	Remapped	Good	GRCh37.p13	PATCHES	First Pass	NW_003315949.1	Chr17\|NW_0 03315949.1	53,702	337,782

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18188159	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18188159	Submitted genomic		NC_000017.11:g.361 68964_36453032dup	GRCh38 (hg38)		NC_000017.11	Chr17	36,168,964	36,453,032
nssv18188159	Remapped	Good	NW_003315949.1:g.5 3702_337782dup	GRCh37.p13	First Pass	NW_003315949.1	Chr17\|NW_0 03315949.1	53,702	337,782

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)
nssv18188159	0.004	84	21344

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