A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19592



Internal ID15827532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31828513..31828595hg38UCSC Ensembl
Outerchr12:31820034..31832578hg38UCSC Ensembl
Innerchr12:31981447..31981529hg19UCSC Ensembl
Outerchr12:31972968..31985512hg19UCSC Ensembl
Innerchr12:31872714..31872796hg18UCSC Ensembl
Outerchr12:31864235..31876779hg18UCSC Ensembl
Innerchr12:31872714..31872796hg17UCSC Ensembl
Outerchr12:31864235..31876779hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3812545
hg1912545
hg1812545
hg1712545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8940
Supporting Variants
SamplesNA07029
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)nssv19592
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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