A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056973



Internal ID19146192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501264..42561282hg38UCSC Ensembl
Innerchr22:42897270..42957288hg19UCSC Ensembl
Innerchr22:41227214..41287232hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3860019
hg1960019
hg1860019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4577n100
Supporting Variantsnssv3737410
Samples
Known GenesRRP7A, 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)nsv1056973
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer