A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2795300



Internal ID15640097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:759914..764749hg38UCSC Ensembl
Innerchr12:869080..873915hg19UCSC Ensembl
Innerchr12:739341..744176hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384836
hg194836
hg184836
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514674
Supporting Variants
SamplesNA12716
Known GenesWNK1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2795300
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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