A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508279



Internal ID284974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132918105..132957155hg38UCSC Ensembl
chr12:133494691..133533741hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3839051
hg1939051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685756
Samples
Known GenesZNF605
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508279
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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