A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14027560



Internal ID21160978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183870196..183870196hg38UCSC Ensembl
chr3:183587984..183587984hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045631
Supporting Variants
SamplesNA12878
Known GenesPARL
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)nssv14027560
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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