A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12046



Internal ID15835644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76377801..76396876hg38UCSC Ensembl
Outerchr4:76377038..76401231hg38UCSC Ensembl
Innerchr4:77298954..77318029hg19UCSC Ensembl
Outerchr4:77298191..77322384hg19UCSC Ensembl
Innerchr4:77517978..77537053hg18UCSC Ensembl
Outerchr4:77517215..77541408hg18UCSC Ensembl
Innerchr4:77656133..77675208hg17UCSC Ensembl
Outerchr4:77655370..77679563hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3824194
hg1924194
hg1824194
hg1724194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10526
Supporting Variants
SamplesNA18552
Known GenesCCDC158
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)nssv12046
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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