A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4950



Internal ID15549711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:108252077..108301647hg38UCSC Ensembl
Outerchr5:107587778..107637348hg19UCSC Ensembl
Outerchr5:107615677..107665247hg18UCSC Ensembl
Outerchr5:107615677..107665247hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3849571
hg1949571
hg1849571
hg1749571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv484
SamplesNA19240
Known GenesFBXL17
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)nsv4950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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