A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508402



Internal ID285091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48156419..48156469hg38UCSC Ensembl
chr12:48550202..48550252hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056868
Samples
Known GenesASB8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508402
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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