A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17473331



Internal ID22531224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18183898..18200600hg38UCSC Ensembl
chr19:18294708..18311410hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3816703
hg1916703
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883560
Supporting Variants
Samples
Known GenesMPV17L2, RAB3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17473331
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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