A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429055



Internal ID207913
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 StatusM
Merged Variants
Supporting Variantsnssv16890750
Samples
Known GenesAPITD1-CORT, CORT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429055
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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