A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471489



Internal ID249224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11521462..11521709hg38UCSC Ensembl
chr7:11561089..11561336hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992668
Samples
Known GenesTHSD7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471489
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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