A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13424



Internal ID15487826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16451826..16452364hg38UCSC Ensembl
Outerchr1:16450522..16453038hg38UCSC Ensembl
Innerchr1:16778321..16778859hg19UCSC Ensembl
Outerchr1:16777017..16779533hg19UCSC Ensembl
Innerchr1:16650908..16651446hg18UCSC Ensembl
Outerchr1:16649604..16652120hg18UCSC Ensembl
Innerchr1:16523627..16524165hg17UCSC Ensembl
Outerchr1:16522323..16524839hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382517
hg192517
hg182517
hg172517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9213
Supporting Variants
SamplesNA18517
Known GenesNECAP2
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)nssv13424
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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