A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549296



Internal ID16336705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228398136..228532779hg38UCSC Ensembl
Innerchr1:228585837..228720480hg19UCSC Ensembl
Innerchr1:226652460..226787103hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38134644
hg19134644
hg18134644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737470
Samples
Known GenesHIST3H2A, HIST3H2BB, HIST3H3, MIR4666A, RNF187, TRIM11, TRIM17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549296
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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