A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2430



Internal ID15200307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18385618..18404127hg38UCSC Ensembl
Outerchr19:18496428..18514937hg19UCSC Ensembl
Outerchr19:18357428..18375937hg18UCSC Ensembl
Outerchr19:18357428..18375937hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3818510
hg1918510
hg1818510
hg1718510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7430
SamplesNA12156
Known GenesGDF15, LRRC25, MIR3189
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)nsv2430
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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