A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077431



Internal ID21451285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112747495..112753622hg38UCSC Ensembl
chr12:113185300..113191427hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386128
hg196128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586651
Supporting Variants
SamplesHG01505
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077431
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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