A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4130



Internal ID15192171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88677365..88708807hg38UCSC Ensembl
Outerchr14:89143709..89175151hg19UCSC Ensembl
Outerchr14:88213462..88244904hg18UCSC Ensembl
Outerchr14:88213462..88244904hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg388305
hg198305
hg188305
hg178305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1391
Supporting Variants
SamplesNA12878
Known GenesEML5
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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