A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058984



Internal ID19148203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42488885..42559770hg38UCSC Ensembl
Innerchr22:42884891..42955776hg19UCSC Ensembl
Innerchr22:41214835..41285720hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3870886
hg1970886
hg1870886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4577n100
Supporting Variantsnssv3590837
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)nsv1058984
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