A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14082



Internal ID15486255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16850525..16872812hg38UCSC Ensembl
Innerchr1:17177020..17199307hg19UCSC Ensembl
Innerchr1:17049607..17071894hg18UCSC Ensembl
Innerchr1:16922326..16944613hg17UCSC Ensembl
Outerchr1:16869908..16945727hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3822288
hg1922288
hg1822288
hg1775820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18502
Known GenesMIR3675
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)nssv14082
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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