A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305647



Internal ID22142101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36528126..36529309hg38UCSC Ensembl
chr22:36924173..36925356hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215103
Supporting Variants
SamplesHG00513
Known GenesEIF3D
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305647
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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