A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072547



Internal ID18975044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50930162..50931263hg38UCSC Ensembl
chr20:49546699..49547800hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765168
SamplesKWP1
Known GenesADNP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072547
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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