A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17954



Internal ID15834265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23100418..23105818hg38UCSC Ensembl
Outerchr7:23091243..23106674hg38UCSC Ensembl
Innerchr7:23140037..23145437hg19UCSC Ensembl
Outerchr7:23130862..23146293hg19UCSC Ensembl
Innerchr7:23106562..23111962hg18UCSC Ensembl
Outerchr7:23097387..23112818hg18UCSC Ensembl
Innerchr7:22913277..22918677hg17UCSC 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 StatusS
Merged Variantsnsv8070
Supporting Variants
SamplesNA18517
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)nssv17954
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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