A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11125



Internal ID15192768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47452135..47482730hg38UCSC Ensembl
Outerchr6:47419871..47450466hg19UCSC Ensembl
Outerchr6:47527830..47558425hg18UCSC Ensembl
Outerchr6:47527830..47558425hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg389277
hg199277
hg189277
hg179277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5290
Supporting Variants
SamplesNA15510
Known GenesCD2AP
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)nssv11125
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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