A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062875



Internal ID18805406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42503422..42577696hg38UCSC Ensembl
Innerchr22:42899428..42973702hg19UCSC Ensembl
Innerchr22:41229372..41303646hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3874275
hg1974275
hg1874275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4578n100
Supporting Variantsnssv3737460, nssv3592175, nssv3592174
Samples
Known GenesRRP7A, RRP7B, SERHL, SERHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062875
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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