A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493460



Internal ID270638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35145002..35151843hg38UCSC Ensembl
chr7:35184614..35191455hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg386842
hg196842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994423
Samples
Known GenesDPY19L2P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493460
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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