A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073011



Internal ID18970686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218399776..218400177hg38UCSC Ensembl
chr2:219264499..219264900hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766904
SamplesKWP1
Known GenesCTDSP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073011
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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