A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17331



Internal ID15838329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23101129..23104479hg38UCSC Ensembl
Outerchr7:23100418..23105352hg38UCSC Ensembl
Innerchr7:23140748..23144098hg19UCSC Ensembl
Outerchr7:23140037..23144971hg19UCSC Ensembl
Innerchr7:23107273..23110623hg18UCSC Ensembl
Outerchr7:23106562..23111496hg18UCSC Ensembl
Innerchr7:22913988..22917338hg17UCSC Ensembl
Outerchr7:22913277..22918211hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384935
hg194935
hg184935
hg174935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8070
Supporting Variants
SamplesNA18860
Known GenesKLHL7-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)nssv17331
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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