A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23910



Internal ID15489189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45512584..45520787hg38UCSC Ensembl
Outerchr17:45511165..45521535hg38UCSC Ensembl
Innerchr17:43589950..43598153hg19UCSC Ensembl
Outerchr17:43588531..43598901hg19UCSC Ensembl
Innerchr17:40945733..40953936hg18UCSC Ensembl
Outerchr17:40944314..40954684hg18UCSC Ensembl
Innerchr17:40945733..40953936hg17UCSC Ensembl
Outerchr17:40944314..40954684hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810371
hg1910371
hg1810371
hg1710371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18563
Known GenesLRRC37A4P
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)nssv23910
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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