A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489264



Internal ID22547183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201335820..201337619hg38UCSC Ensembl
chr2:202200543..202202342hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832147
Supporting Variants
Samples
Known GenesALS2CR12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489264
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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