A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998417



Internal ID16944683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103067564..103135963hg38UCSC Ensembl
Outerchr14:103533901..103602300hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3868400
hg1968400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952257
Supporting Variants
SamplesBILGI_BIOE
Known GenesEXOC3L4, TNFAIP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998417
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