A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010398



Internal ID22072029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19502948..20032175hg38UCSC Ensembl
Outerchr13:19495623..20034420hg38UCSC Ensembl
Innerchr13:20077088..20606315hg19UCSC Ensembl
Outerchr13:20069763..20608560hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38538798
hg19538798
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154876
Supporting Variants
Samples
Known GenesMPHOSPH8, PSPC1, TPTE2, ZMYM2, ZMYM5
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010398
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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