A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599



Internal ID15551524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87895147..87941613hg38UCSC Ensembl
Outerchr9:90510062..90556528hg19UCSC Ensembl
Outerchr9:89699882..89746348hg18UCSC Ensembl
Outerchr9:87739616..87786082hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3816473
hg1916473
hg1816473
hg1716473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv815, nssv10674, nssv814, nssv6286, nssv1790
SamplesNA12156, NA18956, NA18555, NA19240
Known GenesSPATA31C1
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)nsv6599
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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