A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057421



Internal ID18799952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21252783..21563022hg38UCSC Ensembl
Innerchr22:21607072..21917311hg19UCSC Ensembl
Innerchr22:19937072..20247311hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38310240
hg19310240
hg18310240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4488n100
Supporting Variantsnssv3588675, nssv3588677, nssv3731897, nssv3588674, nssv3588676, nssv3731898, nssv3588673
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057421
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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