A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056779



Internal ID19145998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25371001..25511261hg38UCSC Ensembl
Innerchr22:25766968..25907228hg19UCSC Ensembl
Innerchr22:24096968..24237228hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38140261
hg19140261
hg18140261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600736
Samples
Known GenesCRYBB2P1, 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)nsv1056779
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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