A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1078n140



Internal ID22812015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166755897..166761934hg38UCSC Ensembl
chr4:167677048..167683085hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3050550, nsv3057965
SamplesCHM1, NA12878
Known GenesSPOCK3
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)dgv1078n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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