A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753929



Internal ID20529789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234503..39234503hg38UCSC Ensembl
chr1:39700175..39700175hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284595
Samples
Known GenesMACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753929
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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