A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085212



Internal ID20652252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30737401..30746900hg38UCSC Ensembl
chr2:30960267..30969766hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344291
Supporting Variants
Samples
Known GenesCAPN13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085212
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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