A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2519



Internal ID15200396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49871034..49890468hg38UCSC Ensembl
Outerchr19:50374291..50393725hg19UCSC Ensembl
Outerchr19:55066103..55085537hg18UCSC Ensembl
Outerchr19:55066103..55085537hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3819435
hg1919435
hg1819435
hg1719435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7446
SamplesNA12156
Known GenesAKT1S1, IL4I1, MIR4750, TBC1D17
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)nsv2519
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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