A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507563



Internal ID22565511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139644614..139648142hg38UCSC Ensembl
chr8:140656857..140660385hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383529
hg193529
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855505
Supporting Variants
Samples
Known GenesKCNK9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507563
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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