A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27746



Internal ID15843051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247982200..247982607hg38UCSC Ensembl
Outerchr1:247981785..247982964hg38UCSC Ensembl
Innerchr1:248145502..248145909hg19UCSC Ensembl
Outerchr1:248145087..248146266hg19UCSC Ensembl
Innerchr1:246212125..246212532hg18UCSC Ensembl
Outerchr1:246211710..246212889hg18UCSC Ensembl
Innerchr1:244471543..244471950hg17UCSC Ensembl
Outerchr1:244471128..244472307hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381180
hg191180
hg181180
hg171180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9091
Supporting Variants
SamplesNA19173
Known GenesOR2L13
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)nssv27746
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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