A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702448



Internal ID15092414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42172329..42699355hg38UCSC Ensembl
Innerchr19:42676481..43203507hg19UCSC Ensembl
Innerchr19:47368321..47895347hg18UCSC Ensembl
Innerchr19:47368321..47895347hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38527027
hg19527027
hg18527027
hg17527027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526186
Supporting Variants
Samples
Known GenesCEACAM1, CEACAM8, CIC, CNFN, CXCL17, DEDD2, ERF, GSK3A, LIPE, LIPE-AS1, MEGF8, MIR8077, PAFAH1B3, PRR19, TMEM145, ZNF526
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702448
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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