A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488501



Internal ID21146054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117117264..117119202hg38UCSC Ensembl
chr12:117555069..117557007hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381939
hg191939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997182
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488501
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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