A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423638



Internal ID202654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67996417..67999875hg38UCSC Ensembl
chr1:68462100..68465558hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383459
hg193459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904581
Samples
Known GenesGNG12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423638
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