A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057612



Internal ID106262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56113876..56113882hg38UCSC Ensembl
chr12:56507660..56507666hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420220
Supporting Variants
Samples
Known GenesPA2G4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057612
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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