A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10616



Internal ID15195496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248410848..248642242hg38UCSC Ensembl
Outerchr1:248574149..248805543hg19UCSC Ensembl
Outerchr1:246640772..246872166hg18UCSC Ensembl
Outerchr1:244900190..245131584hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38231395
hg19231395
hg18231395
hg17231395
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7193
Supporting Variants
SamplesNA18956
Known GenesOR2G6, OR2T10, OR2T11, OR2T2, 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)nssv10616
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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