A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2481



Internal ID15547044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39582261..39614867hg38UCSC Ensembl
Outerchr19:40072901..40105507hg19UCSC Ensembl
Outerchr19:44764741..44797347hg18UCSC Ensembl
Outerchr19:44764741..44797347hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg388394
hg198394
hg188394
hg178394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452
SamplesNA19240
Known GenesLGALS13
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)nsv2481
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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