A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4218



Internal ID15548905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7223469..7268330hg38UCSC Ensembl
Outerchr4:7225196..7270057hg19UCSC Ensembl
Outerchr4:7276097..7320958hg18UCSC Ensembl
Outerchr4:7343268..7388129hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3844862
hg1944862
hg1844862
hg1744862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4722
SamplesNA19129
Known GenesSORCS2
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)nsv4218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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