A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073133



Internal ID19326170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41953690..41954291hg38UCSC Ensembl
chr21:43373799..43374400hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769948
SamplesKWP1
Known GenesC2CD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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