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dbVar

Database of genomic structural variation

nsv6450978

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:89,500

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: 689 SVs from 69 studies. See in: genome view

Submitted genomic41,053,401-41,142,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6450978	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	41,053,401	41,142,900
nsv6450978	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	69,126,630	69,216,129

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18237108	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18237108	Submitted genomic		NC_000009.12:g.410 53401_41142900dup	GRCh38 (hg38)		NC_000009.12	Chr9	41,053,401	41,142,900
nssv18237108	Remapped	Perfect	NC_000009.11:g.691 26630_69216129dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	69,126,630	69,216,129

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)
nssv18237108	0.407	12209	30000

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