A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021797



Internal ID21172210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113328302..113328302hg38UCSC Ensembl
chr3:113047149..113047149hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045351
Supporting Variants
SamplesNA12878
Known GenesWDR52
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)nssv14021797
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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