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dbVar

Database of genomic structural variation

nsv6351659

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:262,451

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: 674 SVs from 60 studies. See in: genome view

Submitted genomic47,880,987-48,143,437

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6351659	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	47,880,987	48,143,437
nsv6351659	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	48,108,126	48,370,576

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18209834	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18209834	Submitted genomic		NC_000002.12:g.478 80987_48143437dup	GRCh38 (hg38)		NC_000002.12	Chr2	47,880,987	48,143,437
nssv18209834	Remapped	Perfect	NC_000002.11:g.481 08126_48370576dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	48,108,126	48,370,576

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)
nssv18209834	<0.001	1	39264

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