A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592235



Internal ID18890516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42925690..42976521hg38UCSC Ensembl
Innerchr22:43321696..43372527hg19UCSC Ensembl
Innerchr22:41651640..41702471hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3850832
hg1950832
hg1850832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055906
Supporting Variants
Samples
Known GenesPACSIN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3592235
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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