A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4968



Internal ID15549730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116300074..116379159hg38UCSC Ensembl
Outerchr5:115635771..115714856hg19UCSC Ensembl
Outerchr5:115663670..115742755hg18UCSC Ensembl
Outerchr5:115663670..115742755hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3879086
hg1979086
hg1879086
hg1779086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10470, nssv8137
SamplesNA12156, NA18956
Known GenesLOC101927190
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)nsv4968
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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