A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1578



Internal ID15198810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233526629..233562681hg38UCSC Ensembl
Outerchr2:234435275..234471327hg19UCSC Ensembl
Outerchr2:234100014..234145483hg18UCSC Ensembl
Outerchr2:234217275..234262744hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3836053
hg1936053
hg1845470
hg1745470
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7336
Supporting Variants
SamplesNA19240
Known GenesUSP40
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)nssv1578
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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