A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4267



Internal ID15192308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41924016..41960747hg38UCSC Ensembl
Outerchr17:40080269..40112765hg19UCSC Ensembl
Outerchr17:37333795..37366291hg18UCSC Ensembl
Outerchr17:37333795..37366291hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384738
hg194738
hg184738
hg174738
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2056
Supporting Variants
SamplesNA12878
Known GenesTTC25
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)nssv4267
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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