A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7814



Internal ID15536050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:63549118..63582222hg38UCSC Ensembl
Outerchr3:63534794..63567898hg19UCSC Ensembl
Outerchr3:63509834..63542938hg18UCSC Ensembl
Outerchr3:63509834..63542938hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg386332
hg196332
hg186332
hg176332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3848
Supporting Variants
SamplesNA12156
Known GenesSYNPR, SYNPR-AS1
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)nssv7814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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