A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054071



Internal ID21186051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56413388..56413388hg38UCSC Ensembl
chr1:56879060..56879060hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016172
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)nsv3054071
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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