A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952053



Internal ID17300927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:74359803..74392502hg38UCSC Ensembl
Outerchr16:74393701..74426400hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3832700
hg1932700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000171
SamplesBILGI_BIOE
Known GenesLOC283922
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952053
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