A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194463



Internal ID20761503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66580601..66584700hg38UCSC Ensembl
chr12:66974381..66978480hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465683
Supporting Variants
Samples
Known GenesGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194463
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00073


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