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dbVar

Database of genomic structural variation

nsv6541328

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:2,500

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: 86 SVs from 22 studies. See in: genome view

Submitted genomic41,622,301-41,624,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6541328	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	41,622,301	41,624,800
nsv6541328	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	42,018,305	42,020,804

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18074527	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18074527	Submitted genomic		NC_000022.11:g.416 22301_41624800del	GRCh38 (hg38)		NC_000022.11	Chr22	41,622,301	41,624,800
nssv18074527	Remapped	Perfect	NC_000022.10:g.420 18305_42020804del	GRCh37.p13	First Pass	NC_000022.10	Chr22	42,018,305	42,020,804

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)
nssv18074527	<0.001	3	38812

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