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dbVar

Database of genomic structural variation

nsv6451988

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:1,000

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: 316 SVs from 47 studies. See in: genome view

Submitted genomic63,335,201-63,336,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6451988	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	63,335,201	63,336,200
nsv6451988	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	67,290,173	67,291,172

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18228012	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18228012	Submitted genomic		NC_000009.12:g.633 35201_63336200dup	GRCh38 (hg38)		NC_000009.12	Chr9	63,335,201	63,336,200
nssv18228012	Remapped	Perfect	NC_000009.11:g.672 90173_67291172dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	67,290,173	67,291,172

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)
nssv18228012	0.489	17206	35220

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