A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9550



Internal ID15500776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40888389..41135577hg38UCSC Ensembl
Outerchr17:39044641..39291829hg19UCSC Ensembl
Outerchr17:36298167..36545355hg18UCSC Ensembl
Outerchr17:36298167..36545355hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38247189
hg19247189
hg18247189
hg17247189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28275
SamplesNA19221
Known GenesKRT23, KRT39, KRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-11, KRTAP4-12, KRTAP4-7, KRTAP4-8, KRTAP4-9
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)nsv9550
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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