A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5476



Internal ID15197309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33535994..33569649hg38UCSC Ensembl
Outerchr1:34001594..34035249hg19UCSC Ensembl
Outerchr1:33774181..33807836hg18UCSC Ensembl
Outerchr1:33670687..33704342hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385618
hg195618
hg185618
hg175618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv355
Supporting Variants
SamplesNA19129
Known GenesCSMD2
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)nssv5476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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