A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936250



Internal ID22711602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8931524..9173686hg38UCSC Ensembl
chr19:9042200..9284362hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38242163
hg19242163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402692
Samples
Known GenesMUC16, OR1M1, OR7G1, OR7G2, OR7G3, ZNF317
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936250
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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