A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058067



Internal ID18800598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42503422..42579084hg38UCSC Ensembl
Innerchr22:42899428..42975090hg19UCSC Ensembl
Innerchr22:41229372..41305034hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3875663
hg1975663
hg1875663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4578n100
Supporting Variantsnssv3592180, nssv3592179, nssv3592177, nssv3592176, nssv3592178
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)nsv1058067
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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