A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953640



Internal ID16955827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43328821..43514220hg38UCSC Ensembl
Outerchr21:44748701..44934100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38185400
hg19185400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000691
SamplesBILGI_BIOE
Known GenesLINC00313, LINC00319, LINC00322, SIK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953640
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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