A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058824



Internal ID21190586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18925804..18925804hg38UCSC Ensembl
chr1:19252298..19252298hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024228
SamplesCHM1
Known GenesIFFO2
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)nsv3058824
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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