A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982123



Internal ID18270633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18995251..19002264hg38UCSC Ensembl
Innerchr8:18852761..18859774hg19UCSC Ensembl
Innerchr8:18897041..18904054hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387014
hg197014
hg187014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2762616, nssv2766624
SamplesHGDP01029, HGDP01284
Known GenesPSD3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982123
Frequency
Sample Size10
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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