A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469535



Internal ID21127088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81674346..81681873hg38UCSC Ensembl
chr12:82068125..82075652hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387528
hg197528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18004199
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469535
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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