A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464843



Internal ID21122396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71157032..71223212hg38UCSC Ensembl
chr12:71550812..71616992hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3866181
hg1966181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192734
Samples
Known GenesTSPAN8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464843
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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