A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054912



Internal ID21186859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98492577..98492577hg38UCSC Ensembl
chr12:98886355..98886355hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026764
SamplesNA12878
Known GenesLOC643770
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)nsv3054912
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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