A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051609



Internal ID21183661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144681930..144681930hg38UCSC Ensembl
chr1:148894160..148894160hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023588
SamplesNA12878
Known GenesLOC101929780
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)nsv3051609
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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