A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1287



Internal ID15545850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69183032..69217944hg38UCSC Ensembl
Outerchr1:69648715..69683627hg19UCSC Ensembl
Outerchr1:69421303..69456215hg18UCSC Ensembl
Outerchr1:69360736..69395648hg17UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg384836
hg194836
hg184836
hg174836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4293
SamplesNA12878
Known Genes
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)nsv1287
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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