A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8082



Internal ID5110174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43995755..44246828hg19UCSC Ensembl
Outerchr7:43962280..44213353hg18UCSC Ensembl
Outerchr7:43768995..44020068hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count114
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, FLJ35390, GCK, MIR4649, MYL7, PGAM2, POLD2, POLM, POLR2J4, RASA4P, SPDYE1, YKT6
Method
AnalysisCNV regions were defined on the basis of the union of all overlapping CNVs across all 30 HapMap individuals (An additional CNV region, that was not listed in the original published dataset, has been defined to represent variant 311 in sample NA18563).
PlatformAgilent-015685 + 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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