A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507457



Internal ID22565405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58145193..58146248hg38UCSC Ensembl
chr8:59057752..59058807hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864006
Supporting Variants
Samples
Known GenesFAM110B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507457
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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