A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973047



Internal ID22747982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44739947..44739947hg38UCSC Ensembl
chr19:45243204..45243204hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389647
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973047
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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