A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757299



Internal ID17386129
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962871
Supporting Variants
SamplesHGDP00456
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757299
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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