A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2296



Internal ID15546859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49934973..49973482hg38UCSC Ensembl
Outerchr18:47461343..47499852hg19UCSC Ensembl
Outerchr18:45715341..45753850hg18UCSC Ensembl
Outerchr18:45715341..45753850hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3838510
hg1938510
hg1838510
hg1738510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7399
SamplesNA12156
Known GenesMYO5B
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)nsv2296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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