A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478573



Internal ID21136126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121884224..121890521hg38UCSC Ensembl
chr12:122322130..122328427hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386298
hg196298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997813
Samples
Known GenesHPD, PSMD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478573
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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