A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16130



Internal ID15490924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144180888..144184863hg38UCSC Ensembl
Outerchr7:144180179..144185632hg38UCSC Ensembl
Innerchr7:143877981..143881956hg19UCSC Ensembl
Outerchr7:143877272..143882725hg19UCSC Ensembl
Innerchr7:143508914..143512889hg18UCSC Ensembl
Outerchr7:143508205..143513658hg18UCSC Ensembl
Innerchr7:143315629..143319604hg17UCSC Ensembl
Outerchr7:143314920..143320373hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385454
hg195454
hg185454
hg175454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18853
Known GenesCTAGE4
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)nssv16130
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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