A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17431104



Internal ID22488974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71854204..71857792hg38UCSC Ensembl
chr8:72766439..72770027hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg383589
hg193589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908555
Supporting Variants
Samples
Known GenesLOC100132891
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17431104
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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