A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018952



Internal ID21170313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13764291..13764291hg38UCSC Ensembl
chr19:13875105..13875105hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054448
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)nssv14018952
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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