A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417818



Internal ID197007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15272631..15279690hg38UCSC Ensembl
chr1:15599127..15606186hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387060
hg197060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897346
Samples
Known GenesFHAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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