A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14036105



Internal ID21166675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58003892..58004198hg38UCSC Ensembl
chr18:55671124..55671430hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062984
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)nssv14036105
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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