A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916139



Internal ID11480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74843368..74844175hg38UCSC Ensembl
chr2:75070495..75071302hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453585
Supporting Variants
Samples
Known GenesHK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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