A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019871



Internal ID21170963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90797291..90797291hg38UCSC Ensembl
chr14:91263635..91263635hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057743
Supporting Variants
SamplesNA12878
Known GenesTTC7B
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)nssv14019871
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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