A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079788



Internal ID20646828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157309901..157314000hg38UCSC Ensembl
chr2:158166413..158170512hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351823
Supporting Variants
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079788
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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