A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2106



Internal ID15199983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57231044..57263652hg38UCSC Ensembl
Outerchr17:55308405..55341013hg19UCSC Ensembl
Outerchr17:52663404..52696012hg18UCSC Ensembl
Outerchr17:52663404..52696012hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386665
hg196665
hg186665
hg176665
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5664
SamplesNA19129
Known GenesMSI2
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)nsv2106
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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