A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507776



Internal ID284486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60741494..60747045hg38UCSC Ensembl
chr14:61208212..61213763hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385552
hg195552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695978
Samples
Known GenesMNAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507776
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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