A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243780



Internal ID22048390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:16078203..16078203hg38UCSC Ensembl
chr4:16079826..16079826hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855326
Samples
Known GenesPROM1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243780
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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