A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452949



Internal ID231091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56021372..56027886hg38UCSC Ensembl
chr3:56055400..56061914hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386515
hg196515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934549
Samples
Known GenesERC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452949
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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