A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201682



Internal ID20768723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171839501..171846400hg38UCSC Ensembl
chr1:171808641..171815540hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317175
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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