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dbVar

Database of genomic structural variation

nsv6409405

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:536,693

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: 1776 SVs from 82 studies. See in: genome view

Submitted genomic34,426,869-34,963,561

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6409405	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	34,426,869	34,963,561
nsv6409405	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	34,394,646	34,931,338

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18226876	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18226876	Submitted genomic		NC_000006.12:g.344 26869_34963561dup	GRCh38 (hg38)		NC_000006.12	Chr6	34,426,869	34,963,561
nssv18226876	Remapped	Perfect	NC_000006.11:g.343 94646_34931338dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	34,394,646	34,931,338

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)
nssv18226876	<0.001	1	39304

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