A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055771



Internal ID105014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8922128..8922353hg38UCSC Ensembl
chr12:9074724..9074949hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495915
Supporting Variants
Samples
Known GenesPHC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055771
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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