A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10023



Internal ID15542774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:72511492..72534545hg38UCSC Ensembl
Outerchr14:72978200..73001253hg19UCSC Ensembl
Outerchr14:72047953..72071006hg18UCSC Ensembl
Outerchr14:72047953..72071006hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3812798
hg1912798
hg1812798
hg1712798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1347
Supporting Variants
SamplesNA18956
Known GenesMIR7843, RGS6
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)nssv10023
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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