A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952796



Internal ID16954983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149715863..149782744hg38UCSC Ensembl
Outerchr1:149687401..149754300hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3866882
hg1966900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997316
SamplesBILGI_BIOE
Known GenesFCGR1A, HIST2H2BF
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952796
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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