A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062578



Internal ID21194129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67573089..67573089hg38UCSC Ensembl
chr9:38791156..38791156hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030804
SamplesCHM1
Known Genes
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)nsv3062578
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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