A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144529



Internal ID343734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38764399..38791874hg38UCSC Ensembl
chr19:39255039..39282514hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3827476
hg1927476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723278
Samples
Known GenesLGALS7, LGALS7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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