A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511037



Internal ID287639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80562771..80615277hg38UCSC Ensembl
chr12:80956550..81009056hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3852507
hg1952507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689468
Samples
Known GenesPTPRQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511037
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