A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890750



Internal ID168007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10449033..10453366hg38UCSC Ensembl
chr1:10509090..10513423hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384334
hg194334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429055
Supporting Variants
Samples
Known GenesAPITD1-CORT, CORT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890750
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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