A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573743



Internal ID16014466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89664419..89853617hg38UCSC Ensembl
Innerchr16:89730827..89920025hg19UCSC Ensembl
Innerchr16:88258328..88447526hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38189199
hg19189199
hg18189199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149667
SamplesHGDP00629
Known GenesCDK10, FANCA, SPATA2L, SPATA33, SPIRE2, VPS9D1, VPS9D1-AS1, ZNF276
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573743
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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