A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758836



Internal ID20534696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15314617..15314617hg38UCSC Ensembl
chr1:15641113..15641113hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296750
Samples
Known GenesFHAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758836
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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