A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568268



Internal ID21516614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195740597..195740662hg38UCSC Ensembl
chr2:196605321..196605386hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109937
SamplesHG03486
Known GenesDNAH7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568268
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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