A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv990



Internal ID15553011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31941870..31974932hg38UCSC Ensembl
Outerchr13:32516007..32549069hg19UCSC Ensembl
Outerchr13:31414007..31447069hg18UCSC Ensembl
Outerchr13:31414007..31447069hg17UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3833063
hg1933063
hg1833063
hg1733063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2027, nssv9986
SamplesNA18956, NA18555
Known GenesEEF1DP3
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)nsv990
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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