A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27044



Internal ID15839751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41266271..41273782hg38UCSC Ensembl
Outerchr17:41265233..41274869hg38UCSC Ensembl
Innerchr17:39422523..39430034hg19UCSC Ensembl
Outerchr17:39421485..39431121hg19UCSC Ensembl
Innerchr17:36676049..36683560hg18UCSC Ensembl
Outerchr17:36675011..36684647hg18UCSC Ensembl
Innerchr17:36676049..36683560hg17UCSC Ensembl
Outerchr17:36675011..36684647hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389637
hg199637
hg189637
hg179637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9551
Supporting Variants
SamplesNA18972
Known GenesKRTAP9-6
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)nssv27044
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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