A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469352



Internal ID21126905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40460249..40460665hg38UCSC Ensembl
chr12:40854051..40854467hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000923
Samples
Known GenesMUC19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469352
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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