A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537653



Internal ID312895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151998627..151998627hg38UCSC Ensembl
chr1:151971103..151971103hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889236
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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