A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456242



Internal ID234310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99899220..99945068hg38UCSC Ensembl
chr6:100347096..100392944hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3845849
hg1945849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986977
Samples
Known GenesMCHR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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