A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437472



Internal ID216059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229286317..229422523hg38UCSC Ensembl
chr1:229422064..229558270hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38136207
hg19136207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898308
Samples
Known GenesCCSAP, RAB4A, SPHAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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