A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048323



Internal ID21180370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83158657..83158657hg38UCSC Ensembl
chr9:85773572..85773572hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031025
SamplesNA12878
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)nsv3048323
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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