A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511239



Internal ID287830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3166951..3174070hg38UCSC Ensembl
chr12:3276117..3283236hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387120
hg197120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054949
Samples
Known GenesTSPAN9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511239
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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