A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973018



Internal ID19238255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37476760..37476821hg38UCSC Ensembl
Outerchr21:38849062..38849123hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136635
Supporting Variants
SamplesKWS2
Known GenesDYRK1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973018
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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