A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480593



Internal ID22538496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160284561..160290550hg38UCSC Ensembl
chr2:161141072..161147061hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg385990
hg195990
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831394
Supporting Variants
Samples
Known GenesRBMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480593
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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