A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996763



Internal ID16943029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110508545..110516644hg38UCSC Ensembl
Outerchr4:111429701..111437800hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950376
Supporting Variants
SamplesBILGI_BIOE
Known GenesENPEP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996763
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