A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466129



Internal ID21123682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100053601..100055100hg38UCSC Ensembl
chr12:100447379..100448878hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996639
Samples
Known GenesUHRF1BP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466129
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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