A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114296



Internal ID19272540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44189749..44200833hg38UCSC Ensembl
Outerchr21:45609632..45620716hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811085
hg1911085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973807
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114296
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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