A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545071



Internal ID16332480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2273316..2293397hg38UCSC Ensembl
Innerchr1:2204755..2224836hg19UCSC Ensembl
Innerchr1:2194615..2214696hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3820082
hg1920082
hg1820082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708743
Samples
Known GenesSKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545071
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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