A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14874



Internal ID15840376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56576131..56700463hg38UCSC Ensembl
Outerchr7:56444184..56704213hg38UCSC Ensembl
Innerchr7:56643824..56768156hg19UCSC Ensembl
Outerchr7:56511877..56771906hg19UCSC Ensembl
Innerchr7:56611318..56735650hg18UCSC Ensembl
Outerchr7:56479371..56739400hg18UCSC Ensembl
Innerchr7:56418033..56542365hg17UCSC Ensembl
Outerchr7:56286086..56546115hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38260030
hg19260030
hg18260030
hg17260030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8090
Supporting Variants
SamplesNA18975
Known GenesDKFZp434L192, LOC100240728, LOC101928401, LOC650226
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)nssv14874
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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