A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17571814



Internal ID21763857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82173674..82173674hg38UCSC Ensembl
chr6:82883391..82883391hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6062410
Supporting Variants
Samples
Known GenesIBTK
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17571814
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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