A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2496



Internal ID8514041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42130710..42165604hg38UCSC Ensembl
Outerchr19:42634862..42669756hg19UCSC Ensembl
Outerchr19:47326702..47361596hg18UCSC Ensembl
Outerchr19:47326702..47361596hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384855
hg194855
hg184855
hg174855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4362
SamplesNA12878
Known GenesLOC100505622, MIR4323, POU2F2
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)nsv2496
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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