A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953652



Internal ID17302526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45280286..45311685hg38UCSC Ensembl
Outerchr21:46700201..46731600hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3831400
hg1931400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000703
SamplesBILGI_BIOE
Known GenesLOC642852, POFUT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953652
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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