A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669



Internal ID15198516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248440339..248565561hg38UCSC Ensembl
Outerchr1:248603640..248728862hg19UCSC Ensembl
Outerchr1:246670263..246795485hg18UCSC Ensembl
Outerchr1:244929681..245054903hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38125223
hg19125223
hg18125223
hg17125223
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7193
Supporting Variants
SamplesNA19240
Known GenesOR2G6, OR2T2, OR2T29, OR2T3, 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)nssv669
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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