A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195371



Internal ID20762411
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 StatusS
Merged Variantsnsv6469313
Supporting Variants
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195371
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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