A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473622



Internal ID21131175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56681426..56683801hg38UCSC Ensembl
chr12:57075210..57077585hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382376
hg192376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001860
Samples
Known GenesPTGES3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473622
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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