A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2190n100



Internal ID22788277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..22100273hg38UCSC Ensembl
chr15:20203949..22388224hg19UCSC Ensembl
chr15:18463963..19889588hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382101578
hg192184276
hg181425626
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045988, nsv1052081, nsv1040109, nsv1041262, nsv1047395, nsv1053552, nsv1054838, nsv1038335, nsv1037330, nsv1053201, nsv1043483, nsv1036602, nsv1035828, nsv1043589
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N4, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2190n100
Frequency
Sample Size11257
Observed Gain66
Observed Loss25
Observed Complex0
Frequencyn/a


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