A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5828995



Internal ID22603930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201957990..201964194hg38UCSC Ensembl
chr1:201927118..201933322hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386205
hg196205
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17462897
Samples
Known GenesTIMM17A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5828995
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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