A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064048



Internal ID21195569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19769889..19769889hg38UCSC Ensembl
chr1:20096382..20096382hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017018
SamplesNA12878
Known GenesTMCO4
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)nsv3064048
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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