A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139030



Internal ID18931355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42570264..42570315hg38UCSC Ensembl
Outerchr21:43990374..43990425hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991647
SamplesKWS2
Known GenesSLC37A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139030
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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