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dbVar

Database of genomic structural variation

nsv6529454

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:5,194

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: 129 SVs from 25 studies. See in: genome view

Submitted genomic73,255,489-73,260,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6529454	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	73,255,489	73,260,682
nsv6529454	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	71,251,628	71,256,821

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18038358	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18038358	Submitted genomic		NC_000017.11:g.732 55489_73260682del	GRCh38 (hg38)		NC_000017.11	Chr17	73,255,489	73,260,682
nssv18038358	Remapped	Perfect	NC_000017.10:g.712 51628_71256821del	GRCh37.p13	First Pass	NC_000017.10	Chr17	71,251,628	71,256,821

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)
nssv18038358	<0.001	1	39184

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