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dbVar

Database of genomic structural variation

nsv6483167

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:32,329

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: 870 SVs from 81 studies. See in: genome view

Submitted genomic73,552,877-73,585,205

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6483167	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	73,552,877	73,585,205
nsv6483167	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	74,019,581	74,051,909

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18186406	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18186406	Submitted genomic		NC_000014.9:g.7355 2877_73585205dup	GRCh38 (hg38)		NC_000014.9	Chr14	73,552,877	73,585,205
nssv18186406	Remapped	Perfect	NC_000014.8:g.7401 9581_74051909dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	74,019,581	74,051,909

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)
nssv18186406	<0.001	5	37764

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