A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514124



Internal ID15812470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230699809..230701265hg38UCSC Ensembl
Innerchr2:231564524..231565980hg19UCSC Ensembl
Innerchr2:231272768..231274224hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2878746, nssv2878741, nssv2878740, nssv2878738, nssv2878737, nssv2878736, nssv2878739, nssv2878743, nssv2878744, nssv2878742, nssv2878745
SamplesNA18504, NA19131, NA19128, NA19205, NA18910, NA18503, NA19118, NA19174, NA18911, NA18873, NA19129
Known GenesLOC151475
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514124
Frequency
Sample Size2366
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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