A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465496



Internal ID21123049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100548367..100549295hg38UCSC Ensembl
chr12:100942145..100943073hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996666
Samples
Known GenesNR1H4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465496
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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