A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24076



Internal ID15489819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41578850..41581507hg38UCSC Ensembl
Outerchr17:41578231..41582852hg38UCSC Ensembl
Innerchr17:39735102..39737759hg19UCSC Ensembl
Outerchr17:39734483..39739104hg19UCSC Ensembl
Innerchr17:36988628..36991285hg18UCSC Ensembl
Outerchr17:36988009..36992630hg18UCSC Ensembl
Innerchr17:36988628..36991285hg17UCSC Ensembl
Outerchr17:36988009..36992630hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384622
hg194622
hg184622
hg174622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9556
Supporting Variants
SamplesNA18564
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)nssv24076
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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