A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053191



Internal ID21185194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101358752..101359085hg38UCSC Ensembl
chr2:101975214..101975547hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736n140
Supporting Variantsnssv14018045
SamplesNA12878
Known GenesCREG2
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)nsv3053191
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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