A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998432



Internal ID16944698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104843664..104889263hg38UCSC Ensembl
Outerchr14:105310001..105355600hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3845600
hg1945600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952272
Supporting Variants
SamplesBILGI_BIOE
Known GenesCEP170B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998432
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