A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2780261



Internal ID15723549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101709491..101711979hg38UCSC Ensembl
Innerchr12:102103269..102105757hg19UCSC Ensembl
Innerchr12:100627400..100629888hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382489
hg192489
hg182489
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514642
Supporting Variants
SamplesNA19003
Known GenesCHPT1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2780261
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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