A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11060



Internal ID15539648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:53619935..53651064hg38UCSC Ensembl
Outerchr3:53653962..53685091hg19UCSC Ensembl
Outerchr3:53629002..53660131hg18UCSC Ensembl
Outerchr3:53629002..53660131hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg388738
hg198738
hg188738
hg178738
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3826
Supporting Variants
SamplesNA15510
Known GenesCACNA1D
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)nssv11060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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