A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14028803



Internal ID21161810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51403618..51403618hg38UCSC Ensembl
chr13:51977754..51977754hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057661
Supporting Variants
SamplesNA12878
Known GenesINTS6
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)nssv14028803
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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