A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514444



Internal ID15812855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:115943470..115946358hg38UCSC Ensembl
Innerchr7:115583524..115586412hg19UCSC Ensembl
Innerchr7:115370760..115373648hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg382889
hg192889
hg182889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2939849, nssv2939855, nssv2939853, nssv2939850, nssv2939851, nssv2939852, nssv2939854
SamplesNA18621, NA18545, NA18582, NA18572, NA11893, NA19012, NA18636
Known GenesTFEC
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514444
Frequency
Sample Size2366
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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