A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491271



Internal ID268512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67113285..67123518hg38UCSC Ensembl
chr7:66578272..66588505hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3810234
hg1910234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997934
Samples
Known GenesMIR4650-1, MIR4650-2, TYW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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