A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997422



Internal ID20564462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120231085..120242237hg38UCSC Ensembl
chr12:120668888..120680040hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3811153
hg1911153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476910
Supporting Variants
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997422
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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