A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199673



Internal ID20766713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56281268..56763071hg38UCSC Ensembl
chr19:56792637..57274439hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38481804
hg19481803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533935
Supporting Variants
Samples
Known GenesSMIM17, ZFP28, ZNF470, ZNF471, ZNF542, ZNF582, ZNF582-AS1, ZNF583, ZNF667, ZNF667-AS1, ZNF71, ZNF835
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199673
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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