A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914433



Internal ID10373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70215495..70216205hg38UCSC Ensembl
chr2:70442627..70443337hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452371
Supporting Variants
Samples
Known GenesTIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914433
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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