A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv838368



Internal ID15785638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22788625..23088973hg38UCSC Ensembl
Innerchr15:22784095..23084443hg19UCSC Ensembl
Innerchr15:20335459..20635884hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38300349
hg19300349
hg18300426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv568245
Supporting Variants
Samples
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)nssv838368
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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