A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4875



Internal ID15202942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73436860..73481671hg38UCSC Ensembl
Outerchr5:72732687..72777496hg19UCSC Ensembl
Outerchr5:72768443..72813252hg18UCSC Ensembl
Outerchr5:72768443..72813252hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3844812
hg1944810
hg1844810
hg1744810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8114
SamplesNA12156
Known GenesFOXD1
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)nsv4875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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