A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139022



Internal ID18908213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37167374..37167443hg38UCSC Ensembl
Outerchr21:38539676..38539745hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991638
SamplesKWS2
Known GenesTTC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139022
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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