A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9101



Internal ID15534763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:47905548..47939752hg38UCSC Ensembl
Outerchr1:48371220..48405424hg19UCSC Ensembl
Outerchr1:48143807..48178011hg18UCSC Ensembl
Outerchr1:48083240..48117444hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385234
hg195234
hg185234
hg175234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv766
Supporting Variants
SamplesNA12156
Known GenesTRABD2B
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)nssv9101
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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