A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953631



Internal ID16955818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42292191..42294890hg38UCSC Ensembl
Outerchr21:43712301..43715000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000682
SamplesBILGI_BIOE
Known GenesABCG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953631
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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