A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15592



Internal ID15492400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149853423..150167893hg38UCSC Ensembl
Outerchr7:149852698..150168888hg38UCSC Ensembl
Innerchr7:149550512..149864982hg19UCSC Ensembl
Outerchr7:149549787..149865977hg19UCSC Ensembl
Innerchr7:149181445..149495915hg18UCSC Ensembl
Outerchr7:149180720..149496910hg18UCSC Ensembl
Innerchr7:148988160..149302630hg17UCSC Ensembl
Outerchr7:148987435..149303625hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38316191
hg19316191
hg18316191
hg17316191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8229
Supporting Variants
SamplesNA18942
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
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)nssv15592
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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