A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1257



Internal ID15197782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92045254..92075776hg38UCSC Ensembl
Outerchr1:92510811..92541333hg19UCSC Ensembl
Outerchr1:92283399..92313921hg18UCSC Ensembl
Outerchr1:92222832..92253354hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3810476
hg1910476
hg1810476
hg1710476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1855
Supporting Variants
SamplesNA19240
Known GenesEPHX4
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)nssv1257
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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