A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694004



Internal ID117670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30681620..30681671hg38UCSC Ensembl
chr14:31150826..31150877hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561995
Supporting Variants
Samples
Known GenesSCFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.066699


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