A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949756



Internal ID16951943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1710274..1817773hg38UCSC Ensembl
Outerchr4:1712001..1819500hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38107500
hg19107500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996628
SamplesBILGI_BIOE
Known GenesFGFR3, LETM1, SLBP, TACC3, TMEM129
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949756
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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