A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466742



Internal ID21124295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76347901..76348900hg38UCSC Ensembl
chr12:76741681..76742680hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18004084
Samples
Known GenesBBS10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466742
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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