A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600790



Internal ID18899071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28669540..28734740hg38UCSC Ensembl
Innerchr22:29065528..29130728hg19UCSC Ensembl
Innerchr22:27395528..27460728hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3865201
hg1965201
hg1865201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064624
Supporting Variants
Samples
Known GenesCHEK2, TTC28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600790
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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