A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469313



Internal ID21126866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81609231..81616751hg38UCSC Ensembl
chr12:82003010..82010530hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387521
hg197521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195371
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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