A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2469



Internal ID15540659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:66852653..66897894hg38UCSC Ensembl
Outerchr4:67718371..67763612hg19UCSC Ensembl
Outerchr4:67400966..67446207hg18UCSC Ensembl
Outerchr4:67547137..67592378hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3845242
hg1945242
hg1845242
hg1745242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4366
Supporting Variants
SamplesNA18555
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)nssv2469
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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