A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5740



Internal ID15196989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38737530..38787133hg38UCSC Ensembl
Outerchr19:39228170..39277773hg19UCSC Ensembl
Outerchr19:43920010..43969613hg18UCSC Ensembl
Outerchr19:43920010..43969613hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3849604
hg1949604
hg1849604
hg1749604
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7307
Supporting Variants
SamplesNA19129
Known GenesCAPN12, LGALS7
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)nssv5740
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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