A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4878



Internal ID15549631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:74342764..74387427hg38UCSC Ensembl
Outerchr5:73638589..73683252hg19UCSC Ensembl
Outerchr5:73674345..73719008hg18UCSC Ensembl
Outerchr5:73674345..73719008hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3844664
hg1944664
hg1844664
hg1744664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8115
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)nsv4878
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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