A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048860



Internal ID21180908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37562949..37562949hg38UCSC Ensembl
chr3:37604440..37604440hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14038392
SamplesNA12878
Known GenesITGA9
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)nsv3048860
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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