A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5154



Internal ID15203249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244630433..244661214hg38UCSC Ensembl
Outerchr1:244793735..244824516hg19UCSC Ensembl
Outerchr1:242860358..242891139hg18UCSC Ensembl
Outerchr1:241119776..241150557hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388728
hg198728
hg188728
hg178728
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10581
SamplesNA18956
Known GenesC1orf101, DESI2
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)nsv5154
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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