A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464982



Internal ID21122535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14192052..14193808hg38UCSC Ensembl
chr12:14344986..14346742hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999511
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464982
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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