A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063317



Internal ID21194847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158399111..158399453hg38UCSC Ensembl
chr3:158116900..158117242hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv957n140
Supporting Variantsnssv14033792
SamplesNA12878
Known GenesRSRC1
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)nsv3063317
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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