A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060854



Internal ID19150073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367302..21486464hg38UCSC Ensembl
Innerchr22:21721591..21840753hg19UCSC Ensembl
Innerchr22:20051591..20170753hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38119163
hg19119163
hg18119163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4489n100
Supporting Variantsnssv3588682, nssv3588680, nssv3588681
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060854
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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