A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7714



Internal ID15552751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:24693923..24723557hg38UCSC Ensembl
Outerchr11:24715469..24745103hg19UCSC Ensembl
Outerchr11:24672045..24701679hg18UCSC Ensembl
Outerchr11:24672045..24701679hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg389796
hg199796
hg189796
hg179796
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6451
SamplesNA12156
Known GenesLUZP2
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)nsv7714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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