A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064049



Internal ID19153268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46519521..46605384hg38UCSC Ensembl
Innerchr22:46915418..47001281hg19UCSC Ensembl
Innerchr22:45294082..45379945hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3885864
hg1985864
hg1885864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737483
Samples
Known GenesCELSR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064049
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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