A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462777



Internal ID21120330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47701808..47705032hg38UCSC Ensembl
chr12:48095591..48098815hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383225
hg193225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001042
Samples
Known GenesRPAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462777
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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