A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2450



Internal ID15547013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28805332..28850341hg38UCSC Ensembl
Outerchr19:29296239..29341248hg19UCSC Ensembl
Outerchr19:33988079..34033088hg18UCSC Ensembl
Outerchr19:33988079..34033088hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3845010
hg1945010
hg1845010
hg1745010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5736
SamplesNA19129
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)nsv2450
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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