A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057786



Internal ID19147005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265409..25529674hg38UCSC Ensembl
Innerchr22:25661376..25925641hg19UCSC Ensembl
Innerchr22:23991376..24255641hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38264266
hg19264266
hg18264266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3733322
Samples
Known GenesCRYBB2P1, 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)nsv1057786
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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