A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18049351



Internal ID20616392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56655301..56655800hg38UCSC Ensembl
chr19:57166669..57167168hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6517420
Supporting Variants
Samples
Known GenesSMIM17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18049351
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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