A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28928



Internal ID15485668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12899891..12911490hg38UCSC Ensembl
Outerchr1:12899168..12911886hg38UCSC Ensembl
Innerchr1:12959722..12971334hg19UCSC Ensembl
Outerchr1:12958999..12971730hg19UCSC Ensembl
Innerchr1:12882309..12893921hg18UCSC Ensembl
Outerchr1:12881586..12894317hg18UCSC Ensembl
Innerchr1:12893988..12905600hg17UCSC Ensembl
Outerchr1:12893265..12905996hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3812719
hg1912732
hg1812732
hg1712732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA12872
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)nssv28928
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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