A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14027616



Internal ID21155755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222895462..222897955hg38UCSC Ensembl
chr2:223760180..223762673hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382494
hg192494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055160
Supporting Variants
SamplesCHM1
Known GenesACSL3
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)nssv14027616
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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