A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24049



Internal ID15489895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41488538..41572405hg38UCSC Ensembl
Outerchr17:41487965..41573526hg38UCSC Ensembl
Innerchr17:39644790..39728657hg19UCSC Ensembl
Outerchr17:39644217..39729778hg19UCSC Ensembl
Innerchr17:36898316..36982183hg18UCSC Ensembl
Outerchr17:36897743..36983304hg18UCSC Ensembl
Innerchr17:36898316..36982183hg17UCSC Ensembl
Outerchr17:36897743..36983304hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3885562
hg1985562
hg1885562
hg1785562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9555
Supporting Variants
SamplesNA18564
Known GenesKRT13, KRT15, KRT19, KRT36, KRT9, LINC00974, MIR6510
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)nssv24049
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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