A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562533



Internal ID335485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212097292..212097343hg38UCSC Ensembl
chr1:212270634..212270685hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895103
Samples
Known GenesDTL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562533
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