A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018474



Internal ID21170002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75487969..75488148hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047312
Supporting Variants
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)nssv14018474
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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