A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115510



Internal ID18913092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:77192403..77196203hg38UCSC Ensembl
Outerchr16:77226300..77230100hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977318
SamplesKWS2
Known GenesMON1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115510
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