A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684



Internal ID15834207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170457450..170459750hg38UCSC Ensembl
Outerchr6:170456979..170460150hg38UCSC Ensembl
Innerchr6:170766538..170768838hg19UCSC Ensembl
Outerchr6:170766067..170769238hg19UCSC Ensembl
Innerchr6:170608463..170610763hg18UCSC Ensembl
Outerchr6:170607992..170611163hg18UCSC Ensembl
Innerchr6:170684170..170686470hg17UCSC Ensembl
Outerchr6:170683699..170686870hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383172
hg193172
hg183172
hg173172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8020
Supporting Variants
SamplesNA18517
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)nssv17684
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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