A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063788



Internal ID18806319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25308251..25608716hg38UCSC Ensembl
Innerchr22:25704218..26004683hg19UCSC Ensembl
Innerchr22:24034218..24334683hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38300466
hg19300466
hg18300466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4554n100
Supporting Variantsnssv3733444
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063788
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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