A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3944541



Internal ID21364610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270029..30270254hg38UCSC Ensembl
chr13:30844166..30844391hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182699
SamplesHG002
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3944541
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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