A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200432



Internal ID20767472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152128493..152498362hg38UCSC Ensembl
chr1:152100969..152470838hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38369870
hg19369870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316890
Supporting Variants
Samples
Known GenesCRNN, FLG, FLG2, FLG-AS1, HRNR, RPTN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200432
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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