A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535601



Internal ID311214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50635590..50635608hg38UCSC Ensembl
chr14:51102308..51102326hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695217
Samples
Known GenesSAV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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