A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2863



Internal ID15195012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:43705668..43740211hg38UCSC Ensembl
Outerchr11:43727218..43761761hg19UCSC Ensembl
Outerchr11:43683794..43718337hg18UCSC Ensembl
Outerchr11:43683794..43718337hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385467
hg195467
hg185467
hg175467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7754
Supporting Variants
SamplesNA18555
Known GenesHSD17B12
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)nssv2863
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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