A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065973



Internal ID21197394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49468617..49468617hg38UCSC Ensembl
chr13:50042753..50042753hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017181
SamplesCHM1
Known GenesSETDB2
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)nsv3065973
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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