A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044006



Internal ID18786537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22572335..23226874hg38UCSC Ensembl
Innerchr15:22582517..23300761hg19UCSC Ensembl
Innerchr15:20083881..20852202hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38654540
hg19718245
hg18768322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2403n100
Supporting Variantsnssv3538810
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044006
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