A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28171



Internal ID15497357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16814729..16873711hg38UCSC Ensembl
Outerchr17:16814141..16874492hg38UCSC Ensembl
Innerchr17:16718043..16777025hg19UCSC Ensembl
Outerchr17:16717455..16777806hg19UCSC Ensembl
Innerchr17:16658768..16717750hg18UCSC Ensembl
Outerchr17:16658180..16718531hg18UCSC Ensembl
Innerchr17:16658768..16717750hg17UCSC Ensembl
Outerchr17:16658180..16718531hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3860352
hg1960352
hg1860352
hg1760352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9498
Supporting Variants
SamplesNA19221
Known GenesKRT16P2
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)nssv28171
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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