A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078392



Internal ID18977585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29444178..29498579hg38UCSC Ensembl
chr16:29455499..29509900hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3854402
hg1954402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768693
SamplesKWP1
Known GenesBOLA2, BOLA2B, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078392
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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