A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9102



Internal ID15847014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13436008..13455728hg38UCSC Ensembl
Outerchr1:13762482..13782195hg19UCSC Ensembl
Outerchr1:13635069..13654782hg18UCSC Ensembl
Outerchr1:13507788..13527501hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819721
hg1919714
hg1819714
hg1719714
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13770, nssv13441, nssv12762, nssv15449, nssv13431
SamplesNA18502, NA18860, NA19221, NA19240, NA19173
Known Genes
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)nsv9102
Frequency
Sample Size31
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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