A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507102



Internal ID283831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88029314..88029511hg38UCSC Ensembl
chr12:88423091..88423288hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684004
Samples
Known GenesC12orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507102
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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