A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2486



Internal ID15200363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40027308..40053210hg38UCSC Ensembl
Outerchr19:40533215..40559117hg19UCSC Ensembl
Outerchr19:45225055..45250957hg18UCSC Ensembl
Outerchr19:45225055..45250957hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3811680
hg1911680
hg1811680
hg1711680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9336
SamplesNA18517
Known GenesZNF780B
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)nsv2486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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