A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16037



Internal ID15489620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144305324..144307756hg38UCSC Ensembl
Outerchr7:144303865..144307815hg38UCSC Ensembl
Innerchr7:144002417..144004849hg19UCSC Ensembl
Outerchr7:144000958..144004908hg19UCSC Ensembl
Innerchr7:143633350..143635782hg18UCSC Ensembl
Outerchr7:143631891..143635841hg18UCSC Ensembl
Innerchr7:143440065..143442497hg17UCSC Ensembl
Outerchr7:143438606..143442556hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383951
hg193951
hg183951
hg173951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18563
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)nssv16037
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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