A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505117



Internal ID281900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91528297..91535561hg38UCSC Ensembl
chr12:91922074..91929338hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg387265
hg197265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690007
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505117
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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