A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465972



Internal ID243823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30888982..31005512hg38UCSC Ensembl
chr6:30856759..30973289hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38116531
hg19116531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980394
Samples
Known GenesDDR1, DPCR1, GTF2H4, MIR4640, MUC21, SFTA2, VARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer