A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061929



Internal ID21193551
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 StatusM
Merged Variantsdgv467n140
Supporting Variantsnssv14028154
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)nsv3061929
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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