A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25975



Internal ID15484142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45585973..45624348hg38UCSC Ensembl
Outerchr17:45585159..45625102hg38UCSC Ensembl
Innerchr17:43663339..43701714hg19UCSC Ensembl
Outerchr17:43662525..43702468hg19UCSC Ensembl
Innerchr17:41019122..41057497hg18UCSC Ensembl
Outerchr17:41018308..41058251hg18UCSC Ensembl
Innerchr17:41019122..41057497hg17UCSC Ensembl
Outerchr17:41018308..41058251hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3839944
hg1939944
hg1839944
hg1739944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA12155
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)nssv25975
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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