A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999354



Internal ID18845603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29435478..29529679hg38UCSC Ensembl
Outerchr16:29446799..29541000hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3894202
hg1994202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146152
Supporting Variants
SamplesKWB1
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999354
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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