A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202352



Internal ID20769392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231319552..231476061hg38UCSC Ensembl
chr1:231455298..231611807hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38156510
hg19156510
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328624
Supporting Variants
Samples
Known GenesEGLN1, EXOC8, SNRPD2P2, SPRTN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202352
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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