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dbVar

Database of genomic structural variation

nsv6407191

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:217,742

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: 892 SVs from 78 studies. See in: genome view

Submitted genomic27,684,847-27,902,588

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6407191	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	27,684,847	27,902,588
nsv6407191	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	27,652,626	27,870,366

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18220061	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18220061	Submitted genomic		NC_000006.12:g.276 84847_27902588dup	GRCh38 (hg38)		NC_000006.12	Chr6	27,684,847	27,902,588
nssv18220061	Remapped	Perfect	NC_000006.11:g.276 52626_27870366dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	27,652,626	27,870,366

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)
nssv18220061	<0.001	2	39220

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