A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2067



Internal ID15546630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45722684..45757855hg38UCSC Ensembl
Outerchr17:43800050..43835221hg19UCSC Ensembl
Outerchr17:41155833..41190993hg18UCSC Ensembl
Outerchr17:41155833..41190993hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384589
hg194589
hg184589
hg174589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4271
SamplesNA12878
Known GenesCRHR1
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)nsv2067
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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