A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058262



Internal ID21190066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174454806..174454806hg38UCSC Ensembl
chr2:175319534..175319534hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026328
SamplesCHM1
Known GenesGPR155
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)nsv3058262
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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