A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138285



Internal ID337469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15687324..15754503hg38UCSC Ensembl
chr1:16013819..16080998hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3867180
hg1967180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897459
Samples
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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