A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4319n54



Internal ID20137743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22738859..23117883hg38UCSC Ensembl
chr15:22755185..23134244hg19UCSC Ensembl
chr15:20306549..20685685hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38379025
hg19379060
hg18379137
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv568232, nsv568233
Samples1780862444_A, 1798860567_A, HGDP00573, 1780862252_A
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4319n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss5
Observed Complex0
Frequencyn/a


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