A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062434



Internal ID19151653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268006..25515121hg38UCSC Ensembl
Innerchr22:25663973..25911088hg19UCSC Ensembl
Innerchr22:23993973..24241088hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38247116
hg19247116
hg18247116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3588151, nssv3588150, nssv3588148, nssv3588149
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)nsv1062434
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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