A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962871



Internal ID18251427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25238226..25532608hg38UCSC Ensembl
Innerchr22:25634193..25928575hg19UCSC Ensembl
Innerchr22:23964193..24258575hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38294383
hg19294383
hg18294383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760057, nssv2758115, nssv2762271, nssv2764046, nssv2761503, nssv2762882, nssv2759269, nssv2760304, nssv2757299
SamplesHGDP01284, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962871
Frequency
Sample Size10
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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