A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048170



Internal ID21180217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388128..56388128hg38UCSC Ensembl
chr20:54963184..54963184hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037569
SamplesNA12878
Known GenesAURKA
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)nsv3048170
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