A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12448



Internal ID15496129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16488527..16489766hg38UCSC Ensembl
Outerchr1:16484934..16491580hg38UCSC Ensembl
Innerchr1:16815022..16816261hg19UCSC Ensembl
Outerchr1:16811429..16818075hg19UCSC Ensembl
Innerchr1:16687609..16688848hg18UCSC Ensembl
Outerchr1:16684016..16690662hg18UCSC Ensembl
Innerchr1:16560328..16561567hg17UCSC Ensembl
Outerchr1:16556735..16563381hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386647
hg196647
hg186647
hg176647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA19144
Known GenesCROCCP3
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)nssv12448
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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