A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462754



Internal ID21120307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48906889..48914427hg38UCSC Ensembl
chr12:49300672..49308210hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg387539
hg197539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001097
Samples
Known GenesCCDC65
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462754
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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