A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019420



Internal ID21156447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63351171..63351171hg38UCSC Ensembl
chr20:61982523..61982523hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058352
Supporting Variants
SamplesCHM1
Known GenesCHRNA4
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)nssv14019420
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