A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053275



Internal ID21185278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235043446..235043550hg38UCSC Ensembl
chr2:235952090..235952194hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018213
SamplesNA12878
Known GenesSH3BP4
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)nsv3053275
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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