A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5180



Internal ID15196113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123325660..123358976hg38UCSC Ensembl
Outerchr9:126087939..126121255hg19UCSC Ensembl
Outerchr9:125127760..125161076hg18UCSC Ensembl
Outerchr9:123167493..123200809hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg385958
hg195958
hg185958
hg175958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6707
Supporting Variants
SamplesNA19129
Known GenesCRB2
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)nssv5180
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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