A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432478



Internal ID22490348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75033788..75047684hg38UCSC Ensembl
chr8:75946023..75959919hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3813897
hg1913897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918107
Supporting Variants
Samples
Known GenesCRISPLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432478
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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