A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1248



Internal ID15545811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:39569655..39614499hg38UCSC Ensembl
Outerchr14:40038859..40083703hg19UCSC Ensembl
Outerchr14:39108610..39153454hg18UCSC Ensembl
Outerchr14:39108610..39153454hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3844845
hg1944845
hg1844845
hg1744845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9185
SamplesNA12156
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)nsv1248
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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