A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2950333



Internal ID15292164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515723..76520339hg38UCSC Ensembl
Innerchr7:76145040..76149656hg19UCSC Ensembl
Innerchr7:75982976..75987592hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515047
Supporting Variants
SamplesNA12489
Known GenesUPK3B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2950333
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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