A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018452



Internal ID21169992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575244..232575244hg38UCSC Ensembl
chr2:233439954..233439954hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059279
Supporting Variants
SamplesNA12878
Known GenesEIF4E2
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)nssv14018452
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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