A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953646



Internal ID17302520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44279118..44523117hg38UCSC Ensembl
Outerchr21:45699001..45943000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38244000
hg19244000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000697
SamplesBILGI_BIOE
Known GenesAIRE, C21orf2, C21orf90, LRRC3, LRRC3-AS1, PFKL, TRPM2, TSPEAR, TSPEAR-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953646
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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