A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050207



Internal ID21182256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105908639..105908639hg38UCSC Ensembl
chr7:105549085..105549085hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033797
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)nsv3050207
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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