A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17505690



Internal ID22563634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119233528..119237500hg38UCSC Ensembl
chr8:120245768..120249740hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864954
Supporting Variants
Samples
Known GenesMAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17505690
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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