A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14032930



Internal ID21164557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62599786..62599786hg38UCSC Ensembl
chr3:62585461..62585461hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045665
Supporting Variants
SamplesNA12878
Known GenesCADPS
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)nssv14032930
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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