A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472801



Internal ID250503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:15613719..15613801hg38UCSC Ensembl
chr7:15653344..15653426hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993806
Samples
Known GenesMEOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472801
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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