A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26955



Internal ID15495274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347284..46484171hg38UCSC Ensembl
Outerchr17:46346335..46484959hg38UCSC Ensembl
Innerchr17:44424650..44561537hg19UCSC Ensembl
Outerchr17:44423701..44562325hg19UCSC Ensembl
Innerchr17:41780406..41916853hg18UCSC Ensembl
Outerchr17:41779457..41917641hg18UCSC Ensembl
Innerchr17:41780406..41916853hg17UCSC Ensembl
Outerchr17:41779457..41917641hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38138625
hg19138625
hg18138185
hg17138185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA19132
Known GenesARL17A, ARL17B, NSFP1
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)nssv26955
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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