A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484719



Internal ID262127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152116726..152417215hg38UCSC Ensembl
chr7:151813811..152114300hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38300490
hg19300490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005743
Samples
Known GenesGALNT11, KMT2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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