A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4416



Internal ID15192457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54607001..54639837hg38UCSC Ensembl
Outerchr2:54834138..54866974hg19UCSC Ensembl
Outerchr2:54687642..54720478hg18UCSC Ensembl
Outerchr2:54745789..54778625hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg386900
hg196900
hg186900
hg176900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2733
Supporting Variants
SamplesNA12878
Known GenesSPTBN1
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)nssv4416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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