A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055087



Internal ID104561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101094..7101128hg38UCSC Ensembl
chr12:7253690..7253724hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536085
Supporting Variants
Samples
Known GenesC1RL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.464129


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