A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460978



Internal ID21118531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43792282..43798175hg38UCSC Ensembl
chr12:44186085..44191978hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385894
hg195894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000632
Samples
Known GenesTWF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460978
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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