A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969482



Internal ID22744417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43833479..43833479hg38UCSC Ensembl
chr19:44337631..44337631hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391479
Samples
Known GenesZNF283
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969482
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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