A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078393



Internal ID18977217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30191778..30277779hg38UCSC Ensembl
chr16:30203099..30289100hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3886002
hg1986002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764344
SamplesKWP1
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC595101, LOC613037, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078393
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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