A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2422



Internal ID15200299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13000362..13032711hg38UCSC Ensembl
Outerchr19:13111176..13143525hg19UCSC Ensembl
Outerchr19:12972176..13004525hg18UCSC Ensembl
Outerchr19:12972176..13004525hg17UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg387160
hg197160
hg187160
hg177160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10175
SamplesNA18956
Known GenesNFIX
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)nsv2422
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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