A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544979



Internal ID15985702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1337736..1353443hg38UCSC Ensembl
Innerchr1:1273116..1288823hg19UCSC Ensembl
Innerchr1:1262979..1278686hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3815708
hg1915708
hg1815708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n54
Supporting Variantsnssv708542
Samples
Known GenesDVL1, MIR6808, MXRA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544979
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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