A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9108



Internal ID15847020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109764882..109769649hg38UCSC Ensembl
Outerchr13:110417229..110421996hg19UCSC Ensembl
Outerchr13:109215230..109219997hg18UCSC Ensembl
Outerchr13:109215230..109219997hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384768
hg194768
hg184768
hg174768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23649, nssv18820, nssv21274, nssv24376, nssv20544, nssv21110, nssv20646, nssv26588, nssv20853, nssv20846, nssv19325, nssv19151, nssv19339, nssv21675, nssv19552, nssv23491, nssv24388, nssv21587, nssv20042
SamplesNA18502, NA07029, NA18504, NA18563, NA12802, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA19240
Known GenesIRS2
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)nsv9108
Frequency
Sample Size31
Observed Gain7
Observed Loss12
Observed Complex0
Frequencyn/a


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