A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1716



Internal ID15540999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7767179..7785577hg38UCSC Ensembl
Outerchr8:7624701..7643099hg19UCSC Ensembl
Outerchr8:7662111..7680509hg18UCSC Ensembl
Outerchr8:7662111..7680509hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3821630
hg1921630
hg1821630
hg1721630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6069
Supporting Variants
SamplesNA18555
Known GenesFAM90A10P, PRR23D1, PRR23D2
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)nssv1716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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