A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5671



Internal ID15543758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72846455..72855504hg38UCSC Ensembl
Outerchr17:70842594..70851643hg19UCSC Ensembl
Outerchr17:68354189..68363238hg18UCSC Ensembl
Outerchr17:68354189..68363238hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386881
hg196881
hg186881
hg176881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2137
Supporting Variants
SamplesNA19129
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)nssv5671
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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