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dbVar

Database of genomic structural variation

nsv6530755

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:561

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: 121 SVs from 20 studies. See in: genome view

Submitted genomic36,876,519-36,877,079

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6530755	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	36,876,519	36,877,079
nsv6530755	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	35,504,922	35,505,482

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18068076	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18068076	Submitted genomic		NC_000020.11:g.368 76519_36877079del	GRCh38 (hg38)		NC_000020.11	Chr20	36,876,519	36,877,079
nssv18068076	Remapped	Perfect	NC_000020.10:g.355 04922_35505482del	GRCh37.p13	First Pass	NC_000020.10	Chr20	35,504,922	35,505,482

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)
nssv18068076	<0.001	3	34712

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