A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481



Internal ID15550295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:132990526..133053409hg38UCSC Ensembl
Outerchr6:133311665..133374548hg19UCSC Ensembl
Outerchr6:133353358..133416241hg18UCSC Ensembl
Outerchr6:133353358..133416241hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3862884
hg1962884
hg1862884
hg1762884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9698, nssv10517, nssv6089, nssv2615, nssv4943, nssv581
SamplesNA18507, NA12156, NA18956, NA18555, NA19240, NA19129
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)nsv5481
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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