A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8184



Internal ID5110929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100240737..100345945hg19UCSC Ensembl
Outerchr7:100078673..100183881hg18UCSC Ensembl
Outerchr7:99885388..99990596hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count2
Merged StatusM
Merged Variants
Supporting Variantsnssv15904, nssv15997
SamplesNA10839, NA11830
Known GenesACTL6B, EPO, GIGYF1, GNB2, POP7, ZAN
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)nsv8184
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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