A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048172



Internal ID21180219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58427463..58427463hg38UCSC Ensembl
chr20:57002519..57002519hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017227
SamplesNA12878
Known GenesVAPB
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)nsv3048172
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