A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546821



Internal ID15987544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92060121..92184792hg38UCSC Ensembl
Innerchr1:92525678..92650349hg19UCSC Ensembl
Innerchr1:92298266..92422937hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38124672
hg19124672
hg18124672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719301
Samples
Known GenesBTBD8, EPHX4, KIAA1107
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546821
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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