A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688601



Internal ID112267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64053970..64054021hg38UCSC Ensembl
chr12:64447750..64447801hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423517
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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