A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8184



Internal ID8813078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100643114..100748322hg38UCSC Ensembl
Outerchr7:100240737..100345945hg19UCSC Ensembl
Outerchr7:100078673..100183881hg18UCSC Ensembl
Outerchr7:99885388..99990596hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38105209
hg19105209
hg18105209
hg17105209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904, nssv15997
SamplesNA10839, NA11830
Known GenesACTL6B, EPO, GIGYF1, GNB2, POP7, ZAN
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)nsv8184
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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