A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv307



Internal ID15200956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45813244..45848308hg38UCSC Ensembl
Outerchr11:45834795..45869859hg19UCSC Ensembl
Outerchr11:45791371..45826435hg18UCSC Ensembl
Outerchr11:45791371..45826435hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg384675
hg194675
hg184675
hg174675
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3944
SamplesNA12878
Known GenesCRY2
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)nsv307
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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