A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059363



Internal ID21191069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127979505..127979594hg38UCSC Ensembl
chr2:128737079..128737168hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv746n140
Supporting Variantsnssv14027332
SamplesCHM1
Known GenesSAP130
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)nsv3059363
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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