A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019708



Internal ID21157872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70425005..70425065hg38UCSC Ensembl
chr14:70891722..70891782hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062754
Supporting Variants
SamplesCHM1
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)nssv14019708
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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