A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053981



Internal ID21185965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70365954..70366070hg38UCSC Ensembl
chr3:70415105..70415221hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023968
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)nsv3053981
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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