A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141284



Internal ID18910162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30191779..30290679hg38UCSC Ensembl
Outerchr16:30203100..30302000hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3898901
hg1998901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992790
SamplesKWS2
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC595101, LOC613037, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141284
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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