A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1776



Internal ID15541059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143866063..143871274hg38UCSC Ensembl
Outerchr8:144940051..144945442hg19UCSC Ensembl
Outerchr8:145012039..145017430hg18UCSC Ensembl
Outerchr8:145012039..145017430hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810991
hg1910991
hg1810991
hg1710991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6444
Supporting Variants
SamplesNA18555
Known GenesEPPK1
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)nssv1776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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