A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057624



Internal ID106270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56224936..56225369hg38UCSC Ensembl
chr12:56618720..56619153hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498012
Supporting Variants
Samples
Known GenesNABP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057624
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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