A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483074



Internal ID22540981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98195733..98200243hg38UCSC Ensembl
chr2:98812196..98816706hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384511
hg194511
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833889
Supporting Variants
Samples
Known GenesVWA3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483074
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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