A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471104



Internal ID21128657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67513860..67520506hg38UCSC Ensembl
chr12:67907640..67914286hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386647
hg196647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002649
Samples
Known GenesLOC100507175
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471104
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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