A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4847



Internal ID15549597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60227764..60273480hg38UCSC Ensembl
Outerchr5:59523591..59569307hg19UCSC Ensembl
Outerchr5:59559348..59605064hg18UCSC Ensembl
Outerchr5:59559348..59605064hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3845717
hg1945717
hg1845717
hg1745717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5998
SamplesNA12156
Known GenesPDE4D
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)nsv4847
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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