A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20980



Internal ID15485261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45520694..45534042hg38UCSC Ensembl
Outerchr17:45519673..45534274hg38UCSC Ensembl
Innerchr17:43598060..43611408hg19UCSC Ensembl
Outerchr17:43597039..43611640hg19UCSC Ensembl
Innerchr17:40953843..40967191hg18UCSC Ensembl
Outerchr17:40952822..40967423hg18UCSC Ensembl
Innerchr17:40953843..40967191hg17UCSC Ensembl
Outerchr17:40952822..40967423hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3814602
hg1914602
hg1814602
hg1714602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA12802
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)nssv20980
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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