A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482027



Internal ID22539932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206696592..206701986hg38UCSC Ensembl
chr2:207561316..207566710hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385395
hg195395
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832697
Supporting Variants
Samples
Known GenesDYTN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482027
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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