A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904734



Internal ID22679912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11117314..11117487hg38UCSC Ensembl
chr6:11117547..11117720hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410473
Samples
Known GenesSMIM13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904734
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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