A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514130



Internal ID15812474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:993520..997408hg38UCSC Ensembl
Innerchr3:1035204..1039092hg19UCSC Ensembl
Innerchr3:1010204..1014092hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg383889
hg193889
hg183889
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2889255, nssv2889258, nssv2889261, nssv2889253, nssv2889266, nssv2889256, nssv2889257, nssv2889264, nssv2889251, nssv2889249, nssv2889260, nssv2889262, nssv2889248, nssv2889268, nssv2889250, nssv2889272, nssv2889252, nssv2889270, nssv2889269, nssv2889267, nssv2889265, nssv2889259, nssv2889263, nssv2889271, nssv2889254
SamplesNA19141, NA18524, NA12004, NA19107, NA19123, NA19128, NA19239, NA10847, NA19175, NA19152, NA10838, NA19221, NA18907, NA19177, NA18856, NA12892, NA19252, NA19160, NA18909, NA18911, NA18501, NA19223, NA18500, NA19121, NA18522
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514130
Frequency
Sample Size2366
Observed Gain12
Observed Loss13
Observed Complex0
Frequencyn/a


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