A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588799



Internal ID16376208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514588hg38UCSC Ensembl
Innerchr22:25664408..25910555hg19UCSC Ensembl
Innerchr22:23994408..24240555hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246148
hg19246148
hg18246148
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv1151675, nssv1151681, nssv1151676, nssv1151669, nssv1151674, nssv1151677, nssv1151671, nssv1151672, nssv1151670, nssv1151673, nssv1151678, nssv1151679, nssv1151682, nssv1151680
SamplesHGDP00167, HGDP00665, HGDP00315, HGDP01377, HGDP00970, HGDP00274, HGDP01200, HGDP00567, HGDP01376, HGDP00213, HGDP01201, HGDP00716, HGDP00313, HGDP00966
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)nsv588799
Frequency
Sample Size17421
Observed Gain10
Observed Loss4
Observed Complex0
Frequencyn/a


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