A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540779



Internal ID315488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15301142..15301178hg38UCSC Ensembl
chr1:15627638..15627674hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897350
Samples
Known GenesFHAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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