A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3816n106



Internal ID22797644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43962157..43983657hg38UCSC Ensembl
chr8:43817300..43838800hg19UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg3821501
hg1921501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115787, nsv1110514
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3816n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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