A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996791



Internal ID16943057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150348449..150359048hg38UCSC Ensembl
Outerchr4:151269601..151280200hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3810600
hg1910600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949831
Supporting Variants
SamplesBILGI_BIOE
Known GenesLRBA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996791
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