A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004420



Internal ID70585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141242377..141242428hg38UCSC Ensembl
chr7:140942177..140942228hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381919
hg191919
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557817
Supporting Variants
Samples
Known GenesTMEM178B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006264


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