A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568248



Internal ID16008971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22628010..23057339hg38UCSC Ensembl
Innerchr15:22815729..23245086hg19UCSC Ensembl
Innerchr15:20367093..20796527hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38429330
hg19429358
hg18429435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4318n54
Supporting Variantsnssv838371
Samples
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568248
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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