A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050053



Internal ID21182102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166891734..166891790hg38UCSC Ensembl
chr6:167305222..167305278hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020104
SamplesNA12878
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)nsv3050053
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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