A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14632



Internal ID15838717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:53911309..53915469hg38UCSC Ensembl
Outerchr7:53910724..53915824hg38UCSC Ensembl
Innerchr7:53979002..53983162hg19UCSC Ensembl
Outerchr7:53978417..53983517hg19UCSC Ensembl
Innerchr7:53946496..53950656hg18UCSC Ensembl
Outerchr7:53945911..53951011hg18UCSC Ensembl
Innerchr7:53753211..53757371hg17UCSC Ensembl
Outerchr7:53752626..53757726hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg385101
hg195101
hg185101
hg175101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8088
Supporting Variants
SamplesNA18942
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)nssv14632
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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