A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144363



Internal ID21453365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44630016..44630016hg38UCSC Ensembl
chr6:44597753..44597753hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629101
Supporting Variants
SamplesHG02011
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144363
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