A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21538



Internal ID15495637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:758161..764307hg38UCSC Ensembl
Outerchr12:757637..765967hg38UCSC Ensembl
Innerchr12:867327..873473hg19UCSC Ensembl
Outerchr12:866803..875133hg19UCSC Ensembl
Innerchr12:737588..743734hg18UCSC Ensembl
Outerchr12:737064..745394hg18UCSC Ensembl
Innerchr12:737588..743734hg17UCSC Ensembl
Outerchr12:737064..745394hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388331
hg198331
hg188331
hg178331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8888
Supporting Variants
SamplesNA19144
Known GenesWNK1
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)nssv21538
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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