A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350829



Internal ID22576498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226646558..226647045hg38UCSC Ensembl
chr1:226834259..226834746hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886482
Supporting Variants
Samples
Known GenesITPKB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350829
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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