A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994063



Internal ID18869743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502971..44503021hg38UCSC Ensembl
Outerchr21:45922854..45922904hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142576
Supporting Variants
SamplesKWS1
Known GenesTSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994063
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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