A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480705



Internal ID258204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45756740..45795814hg38UCSC Ensembl
chr7:45796339..45835413hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3839075
hg1939075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735665
Samples
Known GenesSEPT7P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480705
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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