A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25488



Internal ID15495708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46337157..46542943hg38UCSC Ensembl
Outerchr17:46336644..46543781hg38UCSC Ensembl
Innerchr17:44414523..44620309hg19UCSC Ensembl
Outerchr17:44414010..44621147hg19UCSC Ensembl
Innerchr17:41770281..41975625hg18UCSC Ensembl
Outerchr17:41769768..41976463hg18UCSC Ensembl
Innerchr17:41770281..41975625hg17UCSC Ensembl
Outerchr17:41769768..41976463hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38207138
hg19207138
hg18206696
hg17206696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA19144
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, 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)nssv25488
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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