A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7212



Internal ID15205513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:274155..355146hg38UCSC Ensembl
Outerchr11:274155..355146hg19UCSC Ensembl
Outerchr11:264155..345146hg18UCSC Ensembl
Outerchr11:264155..345146hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3880992
hg1980992
hg1880992
hg1780992
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5332, nssv977, nssv5333, nssv1916
SamplesNA18555, NA19240, NA19129
Known GenesATHL1, IFITM1, IFITM2, IFITM3, IFITM5, NLRP6
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)nsv7212
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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