A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063583



Internal ID21195113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111422596..111422652hg38UCSC Ensembl
chr6:111743799..111743855hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14038017
SamplesNA12878
Known GenesREV3L
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)nsv3063583
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