A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462152



Internal ID21119705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48345701..48354400hg38UCSC Ensembl
chr12:48739484..48748183hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg388700
hg198700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177914
Samples
Known GenesZNF641
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462152
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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