A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996628



Internal ID16942894
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 StatusS
Merged Variantsnsv949756
Supporting Variants
SamplesBILGI_BIOE
Known GenesFGFR3, LETM1, SLBP, TACC3, TMEM129
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996628
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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