A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202816



Internal ID20769856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248807181..248842053hg38UCSC Ensembl
chr1:249101380..249136252hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3834873
hg1934873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331340
Supporting Variants
Samples
Known GenesMIR3124, SH3BP5L, ZNF672
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202816
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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