A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22925



Internal ID15833735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31828513..31828595hg38UCSC Ensembl
Outerchr12:31746970..31832578hg38UCSC Ensembl
Innerchr12:31981447..31981529hg19UCSC Ensembl
Outerchr12:31899904..31985512hg19UCSC Ensembl
Innerchr12:31872714..31872796hg18UCSC Ensembl
Outerchr12:31791171..31876779hg18UCSC Ensembl
Innerchr12:31872714..31872796hg17UCSC Ensembl
Outerchr12:31791171..31876779hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3885609
hg1985609
hg1885609
hg1785609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8940
Supporting Variants
SamplesNA18504
Known GenesH3F3C
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)nssv22925
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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