A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914031



Internal ID10109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70017448..70017526hg38UCSC Ensembl
chr2:70244580..70244658hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444622
Supporting Variants
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914031
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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