A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030440



Internal ID21162911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82764898..82764898hg38UCSC Ensembl
chr17:80722774..80722774hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056247
Supporting Variants
SamplesNA12878
Known GenesTBCD
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)nssv14030440
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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