A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769202



Internal ID19315706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42974289..42975290hg38UCSC Ensembl
chr21:44394399..44395400hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072608
Supporting Variants
SamplesKWP1
Known GenesPKNOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769202
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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