A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12286



Internal ID15488929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143992991..144122545hg38UCSC Ensembl
Outerchr4:143992108..144124500hg38UCSC Ensembl
Innerchr4:144914144..145043698hg19UCSC Ensembl
Outerchr4:144913261..145045653hg19UCSC Ensembl
Innerchr4:145133594..145263148hg18UCSC Ensembl
Outerchr4:145132711..145265103hg18UCSC Ensembl
Innerchr4:145271749..145401303hg17UCSC Ensembl
Outerchr4:145270866..145403258hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38132393
hg19132393
hg18132393
hg17132393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA18552
Known GenesGYPA, GYPB
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)nssv12286
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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