A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465683



Internal ID21123236
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 StatusM
Merged Variants
Supporting Variantsnssv18194463
Samples
Known GenesGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465683
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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