A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18593



Internal ID15839422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97927588..97929332hg38UCSC Ensembl
Outerchr7:97927266..97929450hg38UCSC Ensembl
Innerchr7:97556900..97558644hg19UCSC Ensembl
Outerchr7:97556578..97558762hg19UCSC Ensembl
Innerchr7:97394836..97396580hg18UCSC Ensembl
Outerchr7:97394514..97396698hg18UCSC Ensembl
Innerchr7:97201551..97203295hg17UCSC Ensembl
Outerchr7:97201229..97203413hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382185
hg192185
hg182185
hg172185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8179
Supporting Variants
SamplesNA18972
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)nssv18593
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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