A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003249



Internal ID17296201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9062977..9082426hg38UCSC Ensembl
Outerchr21:9901810..9921259hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3819450
hg1919450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954289
Supporting Variants
SamplesBILGI_BIOE
Known GenesTEKT4P2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003249
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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