A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5924818



Internal ID22700045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72235081..72241029hg38UCSC Ensembl
chr11:71946125..71952073hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg385949
hg195949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354114
Samples
Known GenesINPPL1, PHOX2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5924818
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