A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546443



Internal ID15987166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66802959..66887277hg38UCSC Ensembl
Innerchr1:67268642..67352960hg19UCSC Ensembl
Innerchr1:67041230..67125548hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3884319
hg1984319
hg1884319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716142
Samples
Known GenesWDR78
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546443
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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