A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353064



Internal ID22578733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15170144..15170144hg38UCSC Ensembl
chr1:15496640..15496640hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5964349
Supporting Variants
Samples
Known GenesC1orf195, TMEM51
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353064
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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