A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044449



Internal ID21953731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1293784..1293784hg38UCSC Ensembl
chr1:1229164..1229164hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533002
Samples
Known GenesACAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044449
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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