A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996617



Internal ID16942883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:988213..1101612hg38UCSC Ensembl
Outerchr4:982001..1095400hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113400
hg19113400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950328
Supporting Variants
SamplesBILGI_BIOE
Known GenesFGFRL1, IDUA, RNF212, SLC26A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996617
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