A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003732



Internal ID20570772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81286007..81286615hg38UCSC Ensembl
chr12:81679786..81680394hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471207
Supporting Variants
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003732
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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