A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479247



Internal ID256777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67964767..67977495hg38UCSC Ensembl
chr7:67429754..67442482hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3812729
hg1912729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997685
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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