A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547224



Internal ID16334633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104778620..104838161hg38UCSC Ensembl
Innerchr1:105321242..105380783hg19UCSC Ensembl
Innerchr1:105122765..105182306hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3859542
hg1959542
hg1859542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720218
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547224
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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