A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894385



Internal ID170414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193202290..193202296hg38UCSC Ensembl
chr1:193171420..193171426hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541676
Supporting Variants
Samples
Known GenesCDC73
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010927


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