A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500164



Internal ID277106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81158224..81159508hg38UCSC Ensembl
chr12:81552003..81553287hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689500
Samples
Known GenesACSS3, MIR4699
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500164
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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