A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170294



Internal ID21314355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21371709..21491066hg38UCSC Ensembl
Outerchr22:21367431..21562864hg38UCSC Ensembl
Innerchr22:21725998..21845355hg19UCSC Ensembl
Outerchr22:21721720..21917153hg19UCSC Ensembl
Innerchr22:20055998..20175355hg18UCSC Ensembl
Outerchr22:20051720..20247153hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38195434
hg19195434
hg18195434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245920, nssv14246318, nssv14242426, nssv14247491, nssv14246407, nssv14244901, nssv14243589, nssv14247599, nssv14247237, nssv14250913, nssv14244192, nssv14248099, nssv14249471
SamplesMLY_15, SNI_17, MLY_5, SNI_13, MLY_11, MLY_17, MLY_12, NGO_4, SNI_9, PML_2, SNI_16, SNI_6, MLY_14
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170294
Frequency
Sample Size93
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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