A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16278191



Internal ID20487409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8511012..8511012hg38UCSC Ensembl
chr17:8414330..8414330hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4768106
Supporting Variants
Samples
Known GenesMYH10
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16278191
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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