A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5109



Internal ID15549885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:166325204..166365201hg38UCSC Ensembl
Outerchr5:165752209..165792206hg19UCSC Ensembl
Outerchr5:165684787..165724784hg18UCSC Ensembl
Outerchr5:165684787..165724784hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3839998
hg1939998
hg1839998
hg1739998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8183
SamplesNA12156
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)nsv5109
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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