A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072139



Internal ID19324070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8763951..8764023hg38UCSC Ensembl
chr21:9652784..9652856hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769120
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072139
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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