A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054197



Internal ID21186177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58621957..58621957hg38UCSC Ensembl
chr10:60381717..60381717hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028189
SamplesNA12878
Known GenesBICC1
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)nsv3054197
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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