A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546072



Internal ID16333481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40552283..40562647hg38UCSC Ensembl
Innerchr1:41017955..41028319hg19UCSC Ensembl
Innerchr1:40790542..40800906hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3810365
hg1910365
hg1810365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv244n54
Supporting Variantsnssv712578, nssv712579, nssv712577
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546072
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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