A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221



Internal ID15194818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38734669..38789081hg38UCSC Ensembl
Outerchr19:39225309..39279721hg19UCSC Ensembl
Outerchr19:43917149..43971561hg18UCSC Ensembl
Outerchr19:43917149..43971561hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3854413
hg1954413
hg1854413
hg1754413
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7307
Supporting Variants
SamplesNA18555
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)nssv2221
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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