A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263182



Internal ID20472400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139984629..139984629hg38UCSC Ensembl
chr7:139684428..139684428hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761356
Supporting Variants
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263182
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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