A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057743



Internal ID21189550
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 StatusM
Merged Variants
Supporting Variantsnssv14019871
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)nsv3057743
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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