A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17476749



Internal ID22534647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47029471..47030970hg38UCSC Ensembl
chr19:47532729..47534228hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869507
Supporting Variants
Samples
Known GenesNPAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17476749
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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