A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530052



Internal ID22399443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14792452..14792574hg38UCSC Ensembl
chr12:14945386..14945508hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360374, nssv14360375
SamplesNA19238, NA19240
Known GenesWBP11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530052
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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