A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031030



Internal ID21163289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45918430..45918430hg38UCSC Ensembl
chr20:44547069..44547069hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3044947
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14031030
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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