A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689011



Internal ID112677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71962821..71964386hg38UCSC Ensembl
chr12:72356601..72358166hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498568
Supporting Variants
Samples
Known GenesTPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689011
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.737039


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