A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472978



Internal ID250680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159980139..159980386hg38UCSC Ensembl
chr6:160401171..160401418hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989228
Samples
Known GenesIGF2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472978
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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