A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139652



Internal ID18925489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29451179..29533979hg38UCSC Ensembl
Outerchr16:29462500..29545300hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3882801
hg1982801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977237
SamplesKWS2
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139652
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer