A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049348



Internal ID21181396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81858343..81858663hg38UCSC Ensembl
chr3:81907494..81907814hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv922n140
Supporting Variantsnssv14029955
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)nsv3049348
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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