A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060181



Internal ID21191871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2605287..2605347hg38UCSC Ensembl
chr6:2605521..2605581hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1227n140
Supporting Variantsnssv14025083
SamplesCHM1
Known Genes
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)nsv3060181
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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