A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7191



Internal ID15205490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:245412945..245773204hg38UCSC Ensembl
Outerchr1:245576247..245936506hg19UCSC Ensembl
Outerchr1:243642870..244003129hg18UCSC Ensembl
Outerchr1:241902288..242262547hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38360260
hg19360260
hg18360260
hg17360260
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6222
SamplesNA12156
Known GenesKIF26B, SMYD3
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)nsv7191
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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