A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031622



Internal ID21163678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:155218867..155218867hg38UCSC Ensembl
chr6:155540001..155540001hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3046906
Supporting Variants
SamplesNA12878
Known GenesTIAM2
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)nssv14031622
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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