A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952971



Internal ID17301845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1483656..1497554hg38UCSC Ensembl
Outerchr20:1464301..1478200hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3813899
hg1913900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999907
SamplesBILGI_BIOE
Known GenesSIRPB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952971
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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