A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6477563



Internal ID21135116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120167184..120208254hg38UCSC Ensembl
chr12:120604988..120646057hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3841071
hg1941070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179065
Samples
Known GenesGCN1L1, PXN-AS1, RPLP0
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6477563
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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