A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546435



Internal ID16333844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63699874..63727526hg38UCSC Ensembl
Innerchr1:64165545..64193197hg19UCSC Ensembl
Innerchr1:63938133..63965785hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3827653
hg1927653
hg1827653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173004
SamplesNINDS_172
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546435
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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