A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4721



Internal ID15549459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:13399921..13433323hg38UCSC Ensembl
Outerchr5:13400033..13433435hg19UCSC Ensembl
Outerchr5:13453033..13486435hg18UCSC Ensembl
Outerchr5:13453033..13486435hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3833403
hg1933403
hg1833403
hg1733403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3330
SamplesNA12878
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)nsv4721
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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