A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2098



Internal ID15546661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:54546788..54578389hg38UCSC Ensembl
Outerchr17:52624149..52655750hg19UCSC Ensembl
Outerchr17:49979148..50010749hg18UCSC Ensembl
Outerchr17:49979148..50010749hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388214
hg198214
hg188214
hg178214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2181
SamplesNA18555
Known Genes
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)nsv2098
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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