A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20975



Internal ID15482256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45553840..45625102hg38UCSC Ensembl
Outerchr17:45552889..45629548hg38UCSC Ensembl
Innerchr17:43631206..43702468hg19UCSC Ensembl
Outerchr17:43630255..43706914hg19UCSC Ensembl
Innerchr17:40986989..41058251hg18UCSC Ensembl
Outerchr17:40986038..41062697hg18UCSC Ensembl
Innerchr17:40986989..41058251hg17UCSC Ensembl
Outerchr17:40986038..41062697hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3876660
hg1976660
hg1876660
hg1776660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA10847
Known GenesCRHR1, LOC644172, MGC57346
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)nssv20975
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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