A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057632



Internal ID106276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56284985..56285074hg38UCSC Ensembl
chr12:56678769..56678858hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505036
Supporting Variants
Samples
Known GenesCS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057632
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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