A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470514



Internal ID248270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140321622..140326129hg38UCSC Ensembl
chr4:141242776..141247283hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg384508
hg194508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958536
Samples
Known GenesLOC100129858, SCOC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470514
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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