A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2246n100



Internal ID22788333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20327352..21096875hg38UCSC Ensembl
chr15:20532605..21302204hg19UCSC Ensembl
chr15:18792619..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38769524
hg19769600
hg18774245
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047620, nsv1047777, nsv1036988, nsv1048249, nsv1049565, nsv1038681, nsv1054706, nsv1037293, nsv1040981, nsv1037317, nsv1037595, nsv1040056, nsv1046716, nsv1049848, nsv1048539, nsv1048167, nsv1039729, nsv1035483, nsv1046538, nsv1044173, nsv1047980, nsv1048541, nsv1047835, nsv1045179, nsv1054022, nsv1055092
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, 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)dgv2246n100
Frequency
Sample Size11257
Observed Gain64
Observed Loss45
Observed Complex0
Frequencyn/a


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