A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12443



Internal ID15492532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12926603..12928094hg38UCSC Ensembl
Outerchr1:12926208..12928192hg38UCSC Ensembl
Innerchr1:12986431..12987922hg19UCSC Ensembl
Outerchr1:12986036..12988020hg19UCSC Ensembl
Innerchr1:12909018..12910509hg18UCSC Ensembl
Outerchr1:12908623..12910607hg18UCSC Ensembl
Innerchr1:12920697..12922188hg17UCSC Ensembl
Outerchr1:12920302..12922286hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381985
hg191985
hg181985
hg171985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18972
Known Genes
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)nssv12443
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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