A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024490



Internal ID21174001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33462150..33462150hg38UCSC Ensembl
chr8:33319668..33319668hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3051182
Supporting Variants
SamplesNA12878
Known GenesFUT10
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)nssv14024490
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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