A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462890



Internal ID21120443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69755901..69767200hg38UCSC Ensembl
chr12:70149681..70160980hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3811300
hg1911300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188938
Samples
Known GenesRAB3IP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462890
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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