A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3240



Internal ID15537968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16182898..16217573hg38UCSC Ensembl
Outerchr4:16184521..16219196hg19UCSC Ensembl
Outerchr4:15793619..15828294hg18UCSC Ensembl
Outerchr4:15860790..15895465hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg385068
hg195068
hg185068
hg175068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4246
Supporting Variants
SamplesNA12878
Known GenesTAPT1
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)nssv3240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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