A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061912



Internal ID19151131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16574845..16807330hg38UCSC Ensembl
Innerchr22:17055735..17288220hg19UCSC Ensembl
Innerchr22:15435735..15668220hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38232486
hg19232486
hg18232486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4462n100
Supporting Variantsnssv3731794, nssv3731796, nssv3731795
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061912
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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