A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439270



Internal ID22497140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74987426..75000549hg38UCSC Ensembl
chr8:75899661..75912784hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3813124
hg1913124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917921
Supporting Variants
Samples
Known GenesCRISPLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439270
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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