A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918



Internal ID15495905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144211963..144213065hg38UCSC Ensembl
Outerchr7:144211902..144213587hg38UCSC Ensembl
Innerchr7:143909056..143910158hg19UCSC Ensembl
Outerchr7:143908995..143910680hg19UCSC Ensembl
Innerchr7:143539989..143541091hg18UCSC Ensembl
Outerchr7:143539928..143541613hg18UCSC Ensembl
Innerchr7:143346704..143347806hg17UCSC Ensembl
Outerchr7:143346643..143348328hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381686
hg191686
hg181686
hg171686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19144
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)nssv16918
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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