A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9555



Internal ID15500781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41487965..41573526hg38UCSC Ensembl
Outerchr17:39644217..39729778hg19UCSC Ensembl
Outerchr17:36897743..36983304hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv24249, nssv26436, nssv24049
SamplesNA18504, NA10839, NA18564
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)nsv9555
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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