A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2989



Internal ID15541558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1132297..1158792hg38UCSC Ensembl
Outerchr19:1132296..1158791hg19UCSC Ensembl
Outerchr19:1083296..1109791hg18UCSC Ensembl
Outerchr19:1083296..1109791hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386580
hg196580
hg186580
hg176580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2386
Supporting Variants
SamplesNA18555
Known GenesSBNO2
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)nssv2989
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer