A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054573



Internal ID21186536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143555815..143556127hg38UCSC Ensembl
chr5:142935380..142935692hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029446
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)nsv3054573
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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