A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060539



Internal ID19149758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367302..21479947hg38UCSC Ensembl
Innerchr22:21721591..21834236hg19UCSC Ensembl
Innerchr22:20051591..20164236hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38112646
hg19112646
hg18112646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4489n100
Supporting Variantsnssv3731900, nssv3588678, nssv3731899
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)nsv1060539
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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