A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4322n54



Internal ID22772217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22788625..23025556hg38UCSC Ensembl
chr15:22847512..23084443hg19UCSC Ensembl
chr15:20398953..20635884hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38236932
hg19236932
hg18236932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv568260, nsv568261, nsv568257
Samples1780862356_A
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4322n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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