A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544978



Internal ID15985701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1337736..1351426hg38UCSC Ensembl
Innerchr1:1273116..1286806hg19UCSC Ensembl
Innerchr1:1262979..1276669hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3813691
hg1913691
hg1813691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n54
Supporting Variantsnssv708541, nssv708540
Samples
Known GenesDVL1, MIR6808
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544978
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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