A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1764



Internal ID15541047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:101248379..101278181hg38UCSC Ensembl
Outerchr8:102260607..102290409hg19UCSC Ensembl
Outerchr8:102329783..102359585hg18UCSC Ensembl
Outerchr8:102329783..102359585hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3810172
hg1910172
hg1810172
hg1710172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331
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)nssv1764
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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