A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003503



Internal ID18845287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29540778..29543879hg38UCSC Ensembl
Outerchr16:29552099..29555200hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150202
Supporting Variants
SamplesKWB1
Known GenesLOC440354
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003503
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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