A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463953



Internal ID241842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148261362..148308516hg38UCSC Ensembl
chr5:147640925..147688079hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3847155
hg1947155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975608
Samples
Known GenesLOC102546294, SPINK13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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