A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546592



Internal ID16334001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77437926..77485775hg38UCSC Ensembl
Innerchr1:77903611..77951460hg19UCSC Ensembl
Innerchr1:77676199..77724048hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847850
hg1947850
hg1847850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173032
SamplesHGDP01164
Known GenesAK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546592
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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