A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494414



Internal ID21151967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121449470..121452102hg38UCSC Ensembl
chr12:121887273..121889905hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382633
hg192633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997749
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494414
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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