A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24552



Internal ID15491623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20964573..20973910hg38UCSC Ensembl
Outerchr13:20963374..20996732hg38UCSC Ensembl
Innerchr13:21538712..21548049hg19UCSC Ensembl
Outerchr13:21537513..21570871hg19UCSC Ensembl
Innerchr13:20436712..20446049hg18UCSC Ensembl
Outerchr13:20435513..20468871hg18UCSC Ensembl
Innerchr13:20436712..20446049hg17UCSC Ensembl
Outerchr13:20435513..20468871hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3833359
hg1933359
hg1833359
hg1733359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9059
Supporting Variants
SamplesNA18860
Known GenesLATS2
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)nssv24552
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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