A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471768



Internal ID21129321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45195701..45198900hg38UCSC Ensembl
chr12:45589484..45592683hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000385
Samples
Known GenesPLEKHA8P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471768
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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