A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10278



Internal ID15195834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240645489..240692712hg38UCSC Ensembl
Outerchr2:241584906..241632129hg19UCSC Ensembl
Outerchr2:241233579..241280802hg18UCSC Ensembl
Outerchr2:241304896..241352119hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3847224
hg1947224
hg1847224
hg1747224
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7337
Supporting Variants
SamplesNA18956
Known GenesAQP12A, AQP12B
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)nssv10278
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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