A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060908



Internal ID21192573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115664243..115664243hg38UCSC Ensembl
chr3:115383090..115383090hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033190
SamplesCHM1
Known GenesGAP43
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)nsv3060908
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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