A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546645



Internal ID16334054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79832265..80265883hg38UCSC Ensembl
Innerchr1:80297950..80731568hg19UCSC Ensembl
Innerchr1:80070538..80504156hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38433619
hg19433619
hg18433619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173038
SamplesHGDP01308
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546645
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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