A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1991



Internal ID8513536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15225960..15250740hg38UCSC Ensembl
Outerchr17:15129277..15154057hg19UCSC Ensembl
Outerchr17:15070002..15094782hg18UCSC Ensembl
Outerchr17:15070002..15094782hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3816222
hg1916222
hg1816222
hg1716222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1348
SamplesNA19240
Known GenesPMP22
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)nsv1991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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