A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28313



Internal ID15496818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45512584..45519673hg38UCSC Ensembl
Outerchr17:45511165..45520694hg38UCSC Ensembl
Innerchr17:43589950..43597039hg19UCSC Ensembl
Outerchr17:43588531..43598060hg19UCSC Ensembl
Innerchr17:40945733..40952822hg18UCSC Ensembl
Outerchr17:40944314..40953843hg18UCSC Ensembl
Innerchr17:40945733..40952822hg17UCSC Ensembl
Outerchr17:40944314..40953843hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389530
hg199530
hg189530
hg179530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA19221
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)nssv28313
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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