A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15019



Internal ID15490456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143716468..143718993hg38UCSC Ensembl
Outerchr7:143716052..143719900hg38UCSC Ensembl
Innerchr7:143413561..143416086hg19UCSC Ensembl
Outerchr7:143413145..143416993hg19UCSC Ensembl
Innerchr7:143044494..143047019hg18UCSC Ensembl
Outerchr7:143044078..143047926hg18UCSC Ensembl
Innerchr7:142851209..142853734hg17UCSC Ensembl
Outerchr7:142850793..142854641hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383849
hg193849
hg183849
hg173849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18572
Known GenesFAM115C
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)nssv15019
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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