A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464607



Internal ID242483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128624100..129882235hg38UCSC Ensembl
chr6:128945245..130203380hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381258136
hg191258136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969969
Samples
Known GenesARHGAP18, LAMA2, TMEM244
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464607
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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