A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078378



Internal ID19319720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22472167..22494197hg38UCSC Ensembl
chr15:23378899..23401300hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3822031
hg1922402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762328
SamplesKWP1
Known GenesHERC2P7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078378
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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