A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9306



Internal ID15540257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:73122434..73143061hg38UCSC Ensembl
Outerchr1:73588117..73608744hg19UCSC Ensembl
Outerchr1:73360705..73381332hg18UCSC Ensembl
Outerchr1:73300138..73320765hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812748
hg1912748
hg1812748
hg1712748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1387
Supporting Variants
SamplesNA18517
Known Genes
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)nssv9306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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