A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473483



Internal ID21131036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70045901..70051300hg38UCSC Ensembl
chr12:70439681..70445080hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002529
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473483
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