A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513599



Internal ID290119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97724693..97739864hg38UCSC Ensembl
chr12:98118471..98133642hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3815172
hg1915172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690168
Samples
Known GenesLOC643711
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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