A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18930



Internal ID15497464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74764137..74794046hg38UCSC Ensembl
Outerchr7:74763448..74794847hg38UCSC Ensembl
Innerchr7:74178482..74208388hg19UCSC Ensembl
Outerchr7:74177793..74209187hg19UCSC Ensembl
Innerchr7:73816418..73846324hg18UCSC Ensembl
Outerchr7:73815729..73847123hg18UCSC Ensembl
Innerchr7:73623133..73653039hg17UCSC Ensembl
Outerchr7:73622444..73653838hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3831400
hg1931395
hg1831395
hg1731395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8142
Supporting Variants
SamplesNA19221
Known GenesNCF1
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)nssv18930
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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