A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544632



Internal ID318761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31972460..31972492hg38UCSC Ensembl
chr12:32125394..32125426hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683937
Samples
Known GenesKIAA1551
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer