A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27230



Internal ID15832533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64906699..64928518hg38UCSC Ensembl
Outerchr17:64906190..64931322hg38UCSC Ensembl
Innerchr17:62902817..62924636hg19UCSC Ensembl
Outerchr17:62902308..62927440hg19UCSC Ensembl
Innerchr17:60333279..60355098hg18UCSC Ensembl
Outerchr17:60332770..60357902hg18UCSC Ensembl
Innerchr17:60333279..60355098hg17UCSC Ensembl
Outerchr17:60332770..60357902hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3825133
hg1925133
hg1825133
hg1725133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA18502
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)nssv27230
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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