A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500616



Internal ID277548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48672380..48672490hg38UCSC Ensembl
chr12:49066163..49066273hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058183
Samples
Known GenesKANSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500616
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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