A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2956348



Internal ID15457991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994164..19000514hg38UCSC Ensembl
Innerchr8:18851674..18858024hg19UCSC Ensembl
Innerchr8:18895954..18902304hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg386351
hg196351
hg186351
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514482
Supporting Variants
SamplesNA21580
Known GenesPSD3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2956348
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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