A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295968



Internal ID22202413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216690901..216693600hg38UCSC Ensembl
chr2:217555624..217558323hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196837
Supporting Variants
SamplesHG00732
Known GenesIGFBP5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295968
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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