A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9592



Internal ID15193036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240649476..240686618hg38UCSC Ensembl
Outerchr2:241588893..241626035hg19UCSC Ensembl
Outerchr2:241237566..241274708hg18UCSC Ensembl
Outerchr2:241308883..241346025hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3837143
hg1937143
hg1837143
hg1737143
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7337
Supporting Variants
SamplesNA18507
Known GenesAQP12B
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)nssv9592
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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