A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5657



Internal ID15197091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41936823..41964875hg38UCSC Ensembl
Outerchr17:40093076..40116893hg19UCSC Ensembl
Outerchr17:37346602..37370419hg18UCSC Ensembl
Outerchr17:37346602..37370419hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386445
hg196445
hg186445
hg176445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2056
Supporting Variants
SamplesNA19129
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)nssv5657
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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