A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13748



Internal ID15830991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36138419..36151136hg38UCSC Ensembl
Outerchr1:36134826..36151706hg38UCSC Ensembl
Innerchr1:36604020..36616737hg19UCSC Ensembl
Outerchr1:36600427..36617307hg19UCSC Ensembl
Innerchr1:36376607..36389324hg18UCSC Ensembl
Outerchr1:36373014..36389894hg18UCSC Ensembl
Innerchr1:36273113..36285830hg17UCSC Ensembl
Outerchr1:36269520..36286400hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3816881
hg1916881
hg1816881
hg1716881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10106
Supporting Variants
SamplesNA12155
Known GenesTRAPPC3
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)nssv13748
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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