A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6250



Internal ID15190928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248433554..248621448hg38UCSC Ensembl
Outerchr1:248596855..248784749hg19UCSC Ensembl
Outerchr1:246663478..246851372hg18UCSC Ensembl
Outerchr1:244922896..245110790hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38187895
hg19187895
hg18187895
hg17187895
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7193
Supporting Variants
SamplesNA12156
Known GenesOR2G6, OR2T10, OR2T2, OR2T29, OR2T3, OR2T34, 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)nssv6250
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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