A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4778



Internal ID15202835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32507319..32541437hg38UCSC Ensembl
Outerchr5:32507425..32541543hg19UCSC Ensembl
Outerchr5:32543182..32577300hg18UCSC Ensembl
Outerchr5:32543182..32577300hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385614
hg195614
hg185614
hg175614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3340
SamplesNA12878
Known Genes
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)nsv4778
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