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dbVar

Database of genomic structural variation

nsv6412992

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:112,283

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: 287 SVs from 36 studies. See in: genome view

Submitted genomic169,200,577-169,312,859

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6412992	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	169,200,577	169,312,859
nsv6412992	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	168,627,581	168,739,863

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18216385	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18216385	Submitted genomic		NC_000005.10:g.169 200577_169312859du p	GRCh38 (hg38)		NC_000005.10	Chr5	169,200,577	169,312,859
nssv18216385	Remapped	Perfect	NC_000005.9:g.1686 27581_168739863dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	168,627,581	168,739,863

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)
nssv18216385	<0.001	1	39246

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