A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500408



Internal ID277344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56311739..56312758hg38UCSC Ensembl
chr12:56705523..56706542hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057637
Samples
Known GenesCNPY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500408
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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