A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556838



Internal ID329963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63177169..63177220hg38UCSC Ensembl
chr1:63642840..63642891hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903878
Samples
Known GenesLINC00466
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556838
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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