A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13749



Internal ID15484472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16903605..16932815hg38UCSC Ensembl
Outerchr1:16903116..16934648hg38UCSC Ensembl
Innerchr1:17230100..17259310hg19UCSC Ensembl
Outerchr1:17229611..17261143hg19UCSC Ensembl
Innerchr1:17102687..17131897hg18UCSC Ensembl
Outerchr1:17102198..17133730hg18UCSC Ensembl
Innerchr1:16975406..17004616hg17UCSC Ensembl
Outerchr1:16974917..17006449hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3831533
hg1931533
hg1831533
hg1731533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12740
Known GenesCROCC
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)nssv13749
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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