A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060194



Internal ID21191884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96712355..96712491hg38UCSC Ensembl
chr6:97160231..97160367hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024675
SamplesCHM1
Known Genes
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)nsv3060194
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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