A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14036918



Internal ID21159142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80811603..80811603hg38UCSC Ensembl
chr17:78785403..78785403hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066123
Supporting Variants
SamplesCHM1
Known GenesRPTOR
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)nssv14036918
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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