A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16424



Internal ID15487517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61973446..61985385hg38UCSC Ensembl
Outerchr1:61972930..61987532hg38UCSC Ensembl
Innerchr1:62439118..62451057hg19UCSC Ensembl
Outerchr1:62438602..62453204hg19UCSC Ensembl
Innerchr1:62211706..62223645hg18UCSC Ensembl
Outerchr1:62211190..62225792hg18UCSC Ensembl
Innerchr1:62151139..62163078hg17UCSC Ensembl
Outerchr1:62150623..62165225hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3814603
hg1914603
hg1814603
hg1714603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10217
Supporting Variants
SamplesNA18517
Known GenesINADL
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)nssv16424
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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