A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6069



Internal ID15550941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7766439..7785721hg38UCSC Ensembl
Outerchr8:7623961..7643243hg19UCSC Ensembl
Outerchr8:7661371..7680653hg18UCSC Ensembl
Outerchr8:7661371..7680653hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827072
hg1927072
hg1827072
hg1727072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11180, nssv1716, nssv3623, nssv1715
SamplesNA12878, NA15510, NA18555
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)nsv6069
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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