A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533987



Internal ID309847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25724513..25724513hg38UCSC Ensembl
chr1:26051004..26051004hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900247
Samples
Known GenesMAN1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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