A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24362



Internal ID15832717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85129518..85131662hg38UCSC Ensembl
Outerchr13:85118827..85132204hg38UCSC Ensembl
Innerchr13:85703653..85705797hg19UCSC Ensembl
Outerchr13:85692962..85706339hg19UCSC Ensembl
Innerchr13:84601654..84603798hg18UCSC Ensembl
Outerchr13:84590963..84604340hg18UCSC Ensembl
Innerchr13:84601654..84603798hg17UCSC Ensembl
Outerchr13:84590963..84604340hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3813378
hg1913378
hg1813378
hg1713378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9095
Supporting Variants
SamplesNA18502
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)nssv24362
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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