A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045042



Internal ID18787573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:90453811..90841192hg38UCSC Ensembl
Innerchr15:90997043..91384422hg19UCSC Ensembl
Innerchr15:88798047..89185426hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38387382
hg19387380
hg18387380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3555218
Samples
Known GenesBLM, CRTC3, IQGAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045042
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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