A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9557



Internal ID15500783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41581507..41586237hg38UCSC Ensembl
Outerchr17:39737759..39742489hg19UCSC Ensembl
Outerchr17:36991285..36996015hg18UCSC Ensembl
Outerchr17:36991285..36996015hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384731
hg194731
hg184731
hg174731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24426, nssv27072, nssv26128, nssv23805, nssv25210, nssv27449
SamplesNA19173, NA18517, NA18860, NA19240, NA18853, NA18980
Known GenesKRT14
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)nsv9557
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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