A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136042



Internal ID18916296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42374686..42377623hg38UCSC Ensembl
Outerchr21:43794795..43797732hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382938
hg192938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989647
SamplesKWS2
Known GenesTMPRSS3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136042
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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