A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051726



Internal ID21183771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003057..55003057hg38UCSC Ensembl
chr1:55468730..55468730hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024761
SamplesNA12878
Known GenesBSND
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)nsv3051726
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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