A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406012



Internal ID22463882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51709917..51720828hg38UCSC Ensembl
chr19:52213170..52224081hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3810912
hg1910912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942909
Supporting Variants
Samples
Known GenesHAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406012
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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