A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7749



Internal ID15552789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42205599..42229057hg38UCSC Ensembl
Outerchr11:42227149..42250607hg19UCSC Ensembl
Outerchr11:42183725..42207183hg18UCSC Ensembl
Outerchr11:42183725..42207183hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3814002
hg1914002
hg1814002
hg1714002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9269
SamplesNA18517
Known GenesLOC100507205
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)nsv7749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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