A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514943



Internal ID15466577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031238..54039926hg38UCSC Ensembl
Innerchr20:52647777..52656465hg19UCSC Ensembl
Innerchr20:52081184..52089872hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388689
hg198689
hg188689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2867813, nssv2860974, nssv2862455, nssv2861990, nssv2859647, nssv2866923, nssv2861890, nssv2867010, nssv2864466, nssv2860361, nssv2862948, nssv2867851, nssv2864156, nssv2866736, nssv2862316, nssv2863227, nssv2865068, nssv2859545, nssv2861521, nssv2867514, nssv2865262
SamplesNA21441, NA21317, NA21600, NA19186, NA06993, NA21310, NA12383, NA21523, NA21525, NA21316, NA12275, NA10836, NA12891, NA06991, NA21601, NA12375, NA12878, NA12248, NA19185, NA11917, NA21526
Known GenesBCAS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514943
Frequency
Sample Size2366
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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