A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4675



Internal ID15549408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:658779..844631hg38UCSC Ensembl
Outerchr5:658894..844746hg19UCSC Ensembl
Outerchr5:711894..897746hg18UCSC Ensembl
Outerchr5:711894..897746hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38185853
hg19185853
hg18185853
hg17185853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503, nssv10436, nssv447, nssv11097
SamplesNA18956, NA15510, NA18555, NA19240
Known GenesTPPP, ZDHHC11
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)nsv4675
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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