A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488992



Internal ID266284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44845030..44846503hg38UCSC Ensembl
chr7:44884629..44886102hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381474
hg191474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995523
Samples
Known GenesH2AFV
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488992
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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