A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064079



Internal ID18806610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28669540..29060071hg38UCSC Ensembl
Innerchr22:29065528..29456059hg19UCSC Ensembl
Innerchr22:27395528..27786059hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38390532
hg19390532
hg18390532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600791
Samples
Known GenesC22orf31, CCDC117, CHEK2, HSCB, TTC28, XBP1, ZNRF3, ZNRF3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064079
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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