A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065740



Internal ID21197170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235412166..235412166hg38UCSC Ensembl
chr1:235575481..235575481hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034951
SamplesCHM1
Known GenesTBCE
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)nsv3065740
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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