A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201716



Internal ID20768757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180179735..180240644hg38UCSC Ensembl
chr1:180148870..180209779hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3860910
hg1960910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322628
Supporting Variants
Samples
Known GenesFLJ23867, LHX4, QSOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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