A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26881



Internal ID15484043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12899891..12938326hg38UCSC Ensembl
Outerchr1:12899168..12938902hg38UCSC Ensembl
Innerchr1:12959722..12998156hg19UCSC Ensembl
Outerchr1:12958999..12998732hg19UCSC Ensembl
Innerchr1:12882309..12920743hg18UCSC Ensembl
Outerchr1:12881586..12921319hg18UCSC Ensembl
Innerchr1:12893988..12932422hg17UCSC Ensembl
Outerchr1:12893265..12932998hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3839735
hg1939734
hg1839734
hg1739734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA12155
Known GenesPRAMEF6, PRAMEF7, PRAMEF8
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)nssv26881
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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