A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474203



Internal ID21131756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30572037..30580402hg38UCSC Ensembl
chr12:30724970..30733336hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388366
hg198367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998936
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474203
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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