A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467486



Internal ID21125039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20696994..20697793hg38UCSC Ensembl
chr12:20849928..20850727hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999954
Samples
Known GenesSLCO1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467486
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