A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482779



Internal ID22540685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230548341..230553488hg38UCSC Ensembl
chr2:231413056..231418203hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832237
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482779
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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