A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524718



Internal ID300914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6921566..7069107hg38UCSC Ensembl
chr18:6921565..7069106hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38147542
hg19147542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716116
Samples
Known GenesLAMA1, LINC00668
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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