A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029442



Internal ID21162247
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 StatusS
Merged Variantsnsv3053971
Supporting Variants
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)nssv14029442
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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