A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461832



Internal ID239775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4865693..4969450hg38UCSC Ensembl
chr7:4905324..5009081hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38103758
hg19103758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992485
Samples
Known GenesMMD2, RADIL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461832
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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