A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053971



Internal ID21185955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3831534..3831863hg38UCSC Ensembl
chr3:3873218..3873547hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv893n140
Supporting Variantsnssv14029442
SamplesNA12878
Known GenesLRRN1
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)nsv3053971
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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