A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055050



Internal ID21186988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202545223..202545223hg38UCSC Ensembl
chr2:203409946..203409946hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026281
SamplesNA12878
Known GenesBMPR2
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)nsv3055050
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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