A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494588



Internal ID271726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93315205..93318346hg38UCSC Ensembl
chr12:93708981..93712122hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383142
hg193142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684128
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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