A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10134



Internal ID15542664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72855259..72860686hg38UCSC Ensembl
Outerchr17:70851398..70856825hg19UCSC Ensembl
Outerchr17:68362993..68368420hg18UCSC Ensembl
Outerchr17:68362993..68368420hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386043
hg196043
hg186043
hg176043
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2137
Supporting Variants
SamplesNA18956
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)nssv10134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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