A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10024



Internal ID15844987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73782553..73810133hg38UCSC Ensembl
Outerchr2:74009680..74037260hg19UCSC Ensembl
Outerchr2:73863188..73890768hg18UCSC Ensembl
Outerchr2:73921335..73948915hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3827581
hg1927581
hg1827581
hg1727581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26722, nssv24904, nssv28012, nssv26852, nssv26729, nssv28488, nssv26549, nssv28811, nssv29037, nssv28880, nssv25447, nssv28243, nssv26846, nssv26850, nssv28097, nssv26170, nssv27929, nssv28348, nssv28151, nssv28288, nssv27621, nssv28307, nssv26376, nssv25960, nssv27411
SamplesNA18502, NA11830, NA18504, NA12155, NA18563, NA18860, NA07048, NA18975, NA19007, NA10847, NA12872, NA18572, NA19221, NA18853, NA19132, NA18517, NA18564, NA19144, NA12740, NA19173, NA18972
Known GenesC2orf78
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10024
Frequency
Sample Size31
Observed Gain8
Observed Loss13
Observed Complex0
Frequencyn/a


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