A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054171



Internal ID21186151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:81370476..81370679hg38UCSC Ensembl
chr10:83130232..83130435hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028149
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)nsv3054171
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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