A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489162



Internal ID21146715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121546706..121547855hg38UCSC Ensembl
chr12:121984611..121985760hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997769
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489162
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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