A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18099974



Internal ID20667014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43720336..43724877hg38UCSC Ensembl
chr3:43761828..43766369hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg384542
hg194542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6371011
Supporting Variants
Samples
Known GenesABHD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18099974
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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