A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13420



Internal ID15484968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16614026..16620788hg38UCSC Ensembl
Outerchr1:16613357..16621644hg38UCSC Ensembl
Innerchr1:16940521..16947283hg19UCSC Ensembl
Outerchr1:16939852..16948139hg19UCSC Ensembl
Innerchr1:16813108..16819870hg18UCSC Ensembl
Outerchr1:16812439..16820726hg18UCSC Ensembl
Innerchr1:16685827..16692589hg17UCSC Ensembl
Outerchr1:16685158..16693445hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg388288
hg198288
hg188288
hg178288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12802
Known GenesCROCCP2, NBPF1
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)nssv13420
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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