A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189953



Internal ID21328798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30597423..30597423hg38UCSC Ensembl
chr22:30993410..30993410hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3928932
Supporting Variants
SamplesHG002
Known GenesPES1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189953
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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