A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415625



Internal ID194881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156896468..156898088hg38UCSC Ensembl
chr1:156866260..156867880hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890935
Samples
Known GenesPEAR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415625
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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