A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473227



Internal ID21130780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4559839..4565336hg38UCSC Ensembl
chr12:4669005..4674502hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385498
hg195498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000417
Samples
Known GenesRAD51AP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473227
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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