A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468544



Internal ID21126097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49842160..49846574hg38UCSC Ensembl
chr12:50235943..50240357hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384415
hg194415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187971
Samples
Known GenesBCDIN3D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468544
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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