A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23617



Internal ID15495464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11128865..11133042hg38UCSC Ensembl
Outerchr12:11128293..11133646hg38UCSC Ensembl
Innerchr12:11281464..11285641hg19UCSC Ensembl
Outerchr12:11280892..11286245hg19UCSC Ensembl
Innerchr12:11172731..11176908hg18UCSC Ensembl
Outerchr12:11172159..11177512hg18UCSC Ensembl
Innerchr12:11172731..11176908hg17UCSC Ensembl
Outerchr12:11172159..11177512hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385354
hg195354
hg185354
hg175354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA19132
Known GenesPRH1-PRR4, TAS2R30
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)nssv23617
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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