A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11495



Internal ID15829040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44964598..45003757hg38UCSC Ensembl
Outerchr4:44963261..45004271hg38UCSC Ensembl
Innerchr4:44966615..45005774hg19UCSC Ensembl
Outerchr4:44965278..45006288hg19UCSC Ensembl
Innerchr4:44661372..44700531hg18UCSC Ensembl
Outerchr4:44660035..44701045hg18UCSC Ensembl
Innerchr4:44807543..44846702hg17UCSC Ensembl
Outerchr4:44806206..44847216hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3841011
hg1941011
hg1841011
hg1741011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10488
Supporting Variants
SamplesNA10847
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)nssv11495
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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