A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23457



Internal ID15482783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45602779..45602818hg38UCSC Ensembl
Outerchr17:45601971..45603935hg38UCSC Ensembl
Innerchr17:43680145..43680184hg19UCSC Ensembl
Outerchr17:43679337..43681301hg19UCSC Ensembl
Innerchr17:41035928..41035967hg18UCSC Ensembl
Outerchr17:41035120..41037084hg18UCSC Ensembl
Innerchr17:41035928..41035967hg17UCSC Ensembl
Outerchr17:41035120..41037084hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381965
hg191965
hg181965
hg171965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA10863
Known GenesLOC644172
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)nssv23457
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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