A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1765



Internal ID15541048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236095512..236114827hg38UCSC Ensembl
Outerchr1:236258812..236278127hg19UCSC Ensembl
Outerchr1:234325435..234344750hg18UCSC Ensembl
Outerchr1:232584853..232604168hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3816396
hg1916396
hg1816396
hg1716396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4966
Supporting Variants
SamplesNA18555
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)nssv1765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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