A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22905



Internal ID15839093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41237073..41238926hg38UCSC Ensembl
Outerchr17:41236127..41239520hg38UCSC Ensembl
Innerchr17:39393325..39395178hg19UCSC Ensembl
Outerchr17:39392379..39395772hg19UCSC Ensembl
Innerchr17:36646851..36648704hg18UCSC Ensembl
Outerchr17:36645905..36649298hg18UCSC Ensembl
Innerchr17:36646851..36648704hg17UCSC Ensembl
Outerchr17:36645905..36649298hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383394
hg193394
hg183394
hg173394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9551
Supporting Variants
SamplesNA18942
Known GenesKRTAP9-8
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)nssv22905
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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