A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8082



Internal ID8812976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43956156..44207229hg38UCSC Ensembl
Outerchr7:43995755..44246828hg19UCSC Ensembl
Outerchr7:43962280..44213353hg18UCSC Ensembl
Outerchr7:43768995..44020068hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38251074
hg19251074
hg18251074
hg17251074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16208, nssv15869, nssv16141, nssv15175, nssv15508, nssv14119, nssv18300, nssv14380, nssv15077, nssv14440, nssv14572, nssv17361, nssv16992, nssv15200, nssv13931, nssv14350, nssv15195, nssv17984, nssv17307, nssv15127, nssv17813, nssv17293
SamplesNA12802, NA19173, NA18972, NA18517, NA19144, NA18860, NA12155, NA18563, NA18537, NA18572, NA18502, NA12872, NA18504, NA18942, NA19221, NA19132, NA11830, NA19240, NA18853, NA18980
Known GenesAEBP1, DBNL, GCK, LINC00957, MIR4649, MIR6837, MIR6838, MYL7, PGAM2, POLD2, POLM, POLR2J4, RASA4CP, SPDYE1, YKT6
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)nsv8082
Frequency
Sample Size31
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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