A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049639



Internal ID18792170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30094196..30795118hg38UCSC Ensembl
Innerchr15:30386399..31087321hg19UCSC Ensembl
Innerchr15:28173691..28874613hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38700923
hg19700923
hg18700923
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3546467, nssv3546466
Samples
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049639
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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