A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124835



Internal ID19250373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50638063..50642163hg38UCSC Ensembl
Outerchr20:49254600..49258700hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976889
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124835
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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