A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4519



Internal ID15192560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3485952..3502963hg38UCSC Ensembl
Outerchr1:3402516..3419527hg19UCSC Ensembl
Outerchr1:3392376..3409387hg18UCSC Ensembl
Outerchr1:3425673..3442684hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385046
hg195046
hg185046
hg175046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv299
Supporting Variants
SamplesNA12878
Known GenesMEGF6
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)nssv4519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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