A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10584



Internal ID15498861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143836418..144124500hg38UCSC Ensembl
Outerchr4:144757571..145045653hg19UCSC Ensembl
Outerchr4:144977021..145265103hg18UCSC Ensembl
Outerchr4:145115176..145403258hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38288083
hg19288083
hg18288083
hg17288083
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11801, nssv12256, nssv14730, nssv12658, nssv12565, nssv12476, nssv12535, nssv12594, nssv13707, nssv12227, nssv13694, nssv12789, nssv13021, nssv12989, nssv12142, nssv12783, nssv12724, nssv12212, nssv14273, nssv14243, nssv12286, nssv12688, nssv11569, nssv12135, nssv12470, nssv11855
SamplesNA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA07029, NA18563, NA12740, NA07048, NA18537, NA18572, NA12872, NA18942, NA19221, NA18552, NA19132, NA19240, NA18853, NA19007, NA18980
Known GenesGYPA, GYPB, GYPE
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)nsv10584
Frequency
Sample Size31
Observed Gain2
Observed Loss21
Observed Complex0
Frequencyn/a


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