A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452168



Internal ID22510040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10447397..10448703hg38UCSC Ensembl
chr1:10507454..10508760hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5827679
Supporting Variants
Samples
Known GenesAPITD1-CORT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452168
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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