A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061282



Internal ID19150501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367302..21486149hg38UCSC Ensembl
Innerchr22:21721591..21840438hg19UCSC Ensembl
Innerchr22:20051591..20170438hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38118848
hg19118848
hg18118848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4489n100
Supporting Variantsnssv3588679
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)nsv1061282
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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