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dbVar

Database of genomic structural variation

nsv6530513

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:6,100

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: 1070 SVs from 69 studies. See in: genome view

Submitted genomic46,496,901-46,503,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6530513	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	46,496,901	46,503,000
nsv6530513	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	44,574,267	44,580,366

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18189538	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18189538	Submitted genomic		NC_000017.11:g.464 96901_46503000dup	GRCh38 (hg38)		NC_000017.11	Chr17	46,496,901	46,503,000
nssv18189538	Remapped	Perfect	NC_000017.10:g.445 74267_44580366dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	44,574,267	44,580,366

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)
nssv18189538	0.295	10975	37176

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