A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14028154



Internal ID21156543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103131984..103132044hg38UCSC Ensembl
chr14:103598321..103598381hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061929
Supporting Variants
SamplesCHM1
Known GenesTNFAIP2
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)nssv14028154
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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