A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128763



Internal ID21453951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170367447..170367447hg38UCSC Ensembl
chr5:169794451..169794451hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5632448
Supporting Variants
SamplesHG02011
Known GenesKCNIP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128763
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