A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417636



Internal ID196827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121120450..121120563hg38UCSC Ensembl
chr1:149787077..149787190hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889991
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417636
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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