A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058315



Internal ID20625355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225035438..225086201hg38UCSC Ensembl
chr1:225223140..225273903hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3850764
hg1950764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333932
Supporting Variants
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058315
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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