A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171



Internal ID15838044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77175156..77175952hg38UCSC Ensembl
Outerchr7:77173931..77176724hg38UCSC Ensembl
Innerchr7:76804473..76805269hg19UCSC Ensembl
Outerchr7:76803248..76806041hg19UCSC Ensembl
Innerchr7:76642409..76643205hg18UCSC Ensembl
Outerchr7:76641184..76643977hg18UCSC Ensembl
Innerchr7:76449124..76449920hg17UCSC Ensembl
Outerchr7:76447899..76450692hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382794
hg192794
hg182794
hg172794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8167
Supporting Variants
SamplesNA18860
Known GenesCCDC146
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)nssv18171
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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