A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030830



Internal ID21163165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34790343..34790579hg38UCSC Ensembl
chr18:32370307..32370543hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052649
Supporting Variants
SamplesNA12878
Known GenesDTNA
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)nssv14030830
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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