A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7249



Internal ID15205553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24158300..24182125hg38UCSC Ensembl
Outerchr14:24627509..24651331hg19UCSC Ensembl
Outerchr14:23697349..23721171hg18UCSC Ensembl
Outerchr14:23697349..23721171hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3823826
hg1923823
hg1823823
hg1723823
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6588
SamplesNA12156
Known GenesIPO4, IRF9, REC8, RNF31
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)nsv7249
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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