A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356552



Internal ID22582221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10447334..10448660hg38UCSC Ensembl
chr1:10507391..10508717hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870088
Supporting Variants
Samples
Known GenesAPITD1-CORT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356552
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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