A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059043



Internal ID21190793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129550481..129550481hg38UCSC Ensembl
chr5:128886174..128886174hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026915
SamplesCHM1
Known GenesADAMTS19
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)nsv3059043
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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