A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4923



Internal ID15549681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96059632..96093415hg38UCSC Ensembl
Outerchr5:95395336..95429119hg19UCSC Ensembl
Outerchr5:95421092..95454875hg18UCSC Ensembl
Outerchr5:95421092..95454875hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg385964
hg195964
hg185964
hg175964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3371
SamplesNA12878
Known GenesMIR583
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)nsv4923
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