A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8502



Internal ID15846414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161507558..161676760hg38UCSC Ensembl
Outerchr1:161477348..161646550hg19UCSC Ensembl
Outerchr1:159743972..159913174hg18UCSC Ensembl
Outerchr1:158290403..158378217hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38169203
hg19169203
hg18169203
hg1787815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19108, nssv20409, nssv26873, nssv26379, nssv25958, nssv22101, nssv26375, nssv24878, nssv19430, nssv26733, nssv23689, nssv20095, nssv26573, nssv22096, nssv21757, nssv22769, nssv25954
SamplesNA11830, NA18980, NA07029, NA18504, NA12155, NA18860, NA10839, NA19221, NA18853, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18552
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)nsv8502
Frequency
Sample Size31
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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