A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690267



Internal ID113933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99592012..99640671hg38UCSC Ensembl
chr12:99985790..100034449hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3848660
hg1948660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510220
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690267
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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