A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685164



Internal ID108830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126251831..127523787hg38UCSC Ensembl
chr12:126736377..128008332hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381271957
hg191271956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497473
Supporting Variants
Samples
Known GenesLINC00943, LINC00944, LOC100128554, LOC101927592, LOC440117
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685164
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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