A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2480



Internal ID15200357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39337145..39371811hg38UCSC Ensembl
Outerchr19:39827785..39862451hg19UCSC Ensembl
Outerchr19:44519625..44554291hg18UCSC Ensembl
Outerchr19:44519625..44554291hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386326
hg196326
hg186326
hg176326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451
SamplesNA19240
Known GenesSAMD4B
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)nsv2480
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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