A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16763



Internal ID15492676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16491580..16505290hg38UCSC Ensembl
Outerchr1:16489766..16506105hg38UCSC Ensembl
Innerchr1:16818075..16831785hg19UCSC Ensembl
Outerchr1:16816261..16832600hg19UCSC Ensembl
Innerchr1:16690662..16704372hg18UCSC Ensembl
Outerchr1:16688848..16705187hg18UCSC Ensembl
Innerchr1:16563381..16577091hg17UCSC Ensembl
Outerchr1:16561567..16577906hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3816340
hg1916340
hg1816340
hg1716340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18972
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)nssv16763
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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