A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062942



Internal ID21194472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68231415..68231633hg38UCSC Ensembl
chr17:66227556..66227774hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv582n140
Supporting Variantsnssv14034176
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)nsv3062942
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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