A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468777



Internal ID21126330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48177138..48177511hg38UCSC Ensembl
chr12:48570921..48571294hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001057
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468777
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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