A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2494



Internal ID15200371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41612811..41648542hg38UCSC Ensembl
Outerchr19:42119169..42152463hg19UCSC Ensembl
Outerchr19:46811009..46844303hg18UCSC Ensembl
Outerchr19:46811009..46844303hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385990
hg195990
hg185990
hg175990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5750
SamplesNA19129
Known GenesCEACAM4
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)nsv2494
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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