A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24249



Internal ID15481920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41516604..41518223hg38UCSC Ensembl
Outerchr17:41515801..41519096hg38UCSC Ensembl
Innerchr17:39672856..39674475hg19UCSC Ensembl
Outerchr17:39672053..39675348hg19UCSC Ensembl
Innerchr17:36926382..36928001hg18UCSC Ensembl
Outerchr17:36925579..36928874hg18UCSC Ensembl
Innerchr17:36926382..36928001hg17UCSC Ensembl
Outerchr17:36925579..36928874hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383296
hg193296
hg183296
hg173296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9555
Supporting Variants
SamplesNA10839
Known GenesKRT15, 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)nssv24249
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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