A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548254



Internal ID15988977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178640221..178696835hg38UCSC Ensembl
Innerchr1:178609356..178665970hg19UCSC Ensembl
Innerchr1:176875979..176932593hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3856615
hg1956615
hg1856615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729117
Samples
Known GenesMIR4424
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548254
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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