A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv957n140



Internal ID22811894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158399111..158399457hg38UCSC Ensembl
chr3:158116900..158117246hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3055705, nsv3063317
SamplesCHM1, NA12878
Known GenesRSRC1
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)dgv957n140
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