A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588782



Internal ID16376191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25514700hg38UCSC Ensembl
Innerchr22:25661725..25910667hg19UCSC Ensembl
Innerchr22:23991725..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248943
hg19248943
hg18248943
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv1151651, nssv1151659, nssv1151655, nssv954385, nssv954379, nssv1151652, nssv1151650, nssv954384, nssv954382, nssv954383, nssv1151658, nssv1151657, nssv1151654, nssv954380, nssv1151653, nssv954381, nssv1151656, nssv954386
SamplesHGDP01229, HGDP01047, NINDS_195, NINDS_229, 1780862101_A, HGDP00241, 1780862597_A, HGDP00131, HGDP00819, HGDP00096
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588782
Frequency
Sample Size17421
Observed Gain11
Observed Loss7
Observed Complex0
Frequencyn/a


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