A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546806



Internal ID15987529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91314851..91409948hg38UCSC Ensembl
Innerchr1:91780408..91875505hg19UCSC Ensembl
Innerchr1:91552996..91648093hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3895098
hg1995098
hg1895098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719088
Samples
Known GenesHFM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546806
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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