A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8070



Internal ID15845982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:23091243..23106674hg38UCSC Ensembl
Outerchr7:23130862..23146293hg19UCSC Ensembl
Outerchr7:23097387..23112818hg18UCSC Ensembl
Outerchr7:22904102..22919533hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3815432
hg1915432
hg1815432
hg1715432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17954, nssv17331
SamplesNA18860, NA18517
Known GenesKLHL7, KLHL7-AS1
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)nsv8070
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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