A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546416



Internal ID15987139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61972200..62026543hg38UCSC Ensembl
Innerchr1:62437872..62492215hg19UCSC Ensembl
Innerchr1:62210460..62264803hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3854344
hg1954344
hg1854344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716090
Samples
Known GenesINADL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546416
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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