A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26093



Internal ID15830888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64918688..64926843hg38UCSC Ensembl
Outerchr17:64915287..64927921hg38UCSC Ensembl
Innerchr17:62914806..62922961hg19UCSC Ensembl
Outerchr17:62911405..62924039hg19UCSC Ensembl
Innerchr17:60345268..60353423hg18UCSC Ensembl
Outerchr17:60341867..60354501hg18UCSC Ensembl
Innerchr17:60345268..60353423hg17UCSC Ensembl
Outerchr17:60341867..60354501hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3812635
hg1912635
hg1812635
hg1712635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA12155
Known GenesLRRC37A3
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)nssv26093
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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