A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569243



Internal ID16009966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43599314..43646090hg38UCSC Ensembl
Innerchr15:43891512..43938288hg19UCSC Ensembl
Innerchr15:41678804..41725580hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3846777
hg1946777
hg1846777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842234
Samples
Known GenesCATSPER2, CKMT1B, RNU6-28P, STRC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer