A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072561



Internal ID19322496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8547766..8550367hg38UCSC Ensembl
chr21:9436599..9439200hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769445
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072561
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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