A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514318



Internal ID15812731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111573116..111574724hg38UCSC Ensembl
Innerchr5:110908813..110910421hg19UCSC Ensembl
Innerchr5:110936712..110938320hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381609
hg191609
hg181609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2915576, nssv2915579, nssv2915575, nssv2915572, nssv2915566, nssv2915571, nssv2915568, nssv2915565, nssv2915562, nssv2915578, nssv2915564, nssv2915567, nssv2915570, nssv2915563, nssv2915574, nssv2915560, nssv2915561, nssv2915573, nssv2915569, nssv2915577, nssv2915580
SamplesNA18497, NA21317, NA18861, NA19092, NA21648, NA21360, NA18498, NA21365, NA21523, NA19205, NA21485, NA19118, NA19101, NA19160, NA19094, NA18909, NA19174, NA21361, NA18911, NA21580, NA21363
Known GenesSTARD4-AS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514318
Frequency
Sample Size2366
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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