A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5836



Internal ID15543910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174489865..174524551hg38UCSC Ensembl
Outerchr2:175354593..175389279hg19UCSC Ensembl
Outerchr2:175062839..175097525hg18UCSC Ensembl
Outerchr2:175180100..175214786hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3834687
hg1934687
hg1834687
hg1734687
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7333
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5836
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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