A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1383



Internal ID15544330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72861971..72864510hg38UCSC Ensembl
Outerchr17:70858110..70860649hg19UCSC Ensembl
Outerchr17:68369705..68372244hg18UCSC Ensembl
Outerchr17:68369705..68372244hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3811359
hg1911359
hg1811359
hg1711359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2137
Supporting Variants
SamplesNA19240
Known GenesSLC39A11
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)nssv1383
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