A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387958



Internal ID22445828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38997575..39000144hg38UCSC Ensembl
chr1:39463247..39465816hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382570
hg192570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870674
Supporting Variants
Samples
Known GenesAKIRIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387958
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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