A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7193



Internal ID15205492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248410848..248670089hg38UCSC Ensembl
Outerchr1:248574149..248833390hg19UCSC Ensembl
Outerchr1:246640772..246900013hg18UCSC Ensembl
Outerchr1:244900190..245159431hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38259242
hg19259242
hg18259242
hg17259242
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6250, nssv10616, nssv10620, nssv5122, nssv9432, nssv10617, nssv3853, nssv5132, nssv9433, nssv669, nssv3850, nssv9748
SamplesNA18517, NA18507, NA18956, NA19129, NA12156, NA12878, NA19240
Known GenesOR2G6, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5
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)nsv7193
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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