A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049292



Internal ID21181340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148849007..148849325hg38UCSC Ensembl
chr3:148566794..148567112hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv950n140
Supporting Variantsnssv14029177
SamplesNA12878
Known GenesCPB1
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)nsv3049292
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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