A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073186



Internal ID18974836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48497287..48498188hg38UCSC Ensembl
chr22:48893099..48894000hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767343
SamplesKWP1
Known GenesFAM19A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073186
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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