A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545067



Internal ID15985790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2208822..2263678hg38UCSC Ensembl
Innerchr1:2140261..2195117hg19UCSC Ensembl
Innerchr1:2130121..2184977hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3854857
hg1954857
hg1854857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1172580
Samples1780862414_A
Known GenesC1orf86, SKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545067
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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