A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28045



Internal ID15837377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12684032..12685664hg38UCSC Ensembl
Outerchr1:12683137..12687946hg38UCSC Ensembl
Innerchr1:12744042..12745674hg19UCSC Ensembl
Outerchr1:12743147..12747960hg19UCSC Ensembl
Innerchr1:12666629..12668261hg18UCSC Ensembl
Outerchr1:12665734..12670547hg18UCSC Ensembl
Innerchr1:12678308..12679940hg17UCSC Ensembl
Outerchr1:12677413..12682226hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384810
hg194814
hg184814
hg174814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8657
Supporting Variants
SamplesNA18853
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)nssv28045
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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