A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605212



Internal ID21553517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41948736..41948736hg38UCSC Ensembl
chr1:42414407..42414407hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065773
SamplesHG03125
Known GenesHIVEP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605212
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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