A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10157



Internal ID15845120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:129931274..130010896hg38UCSC Ensembl
Outerchr2:130688847..130768469hg19UCSC Ensembl
Outerchr2:130405317..130484939hg18UCSC Ensembl
Outerchr2:130405077..130484699hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3879623
hg1979623
hg1879623
hg1779623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27634, nssv28572, nssv28840, nssv28985, nssv28621, nssv27932, nssv27737, nssv27148, nssv28523, nssv28289, nssv28750, nssv11820, nssv28826, nssv27292, nssv28965, nssv28521, nssv28706, nssv11663, nssv28914, nssv28818, nssv28828, nssv28796, nssv28955, nssv27837, nssv27614, nssv28788, nssv28287, nssv28295, nssv28086, nssv27295, nssv28239, nssv27524, nssv27412, nssv29015
SamplesNA18502, NA11830, NA18980, NA18504, NA12155, NA18563, NA18860, NA18942, NA07048, NA18975, NA10847, NA10863, NA12872, NA19221, NA18537, NA18853, NA19132, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972
Known GenesLOC389033, RAB6C, RAB6C-AS1
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)nsv10157
Frequency
Sample Size31
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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