A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546264



Internal ID15986987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54112728..54125649hg38UCSC Ensembl
Innerchr1:54578401..54591322hg19UCSC Ensembl
Innerchr1:54350989..54363910hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3812922
hg1912922
hg1812922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173851, nssv1173850
Samples1780854105_A, 1780854558_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546264
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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