A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv978



Internal ID15198247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1010998..1017194hg38UCSC Ensembl
Outerchr11:1010998..1017194hg19UCSC Ensembl
Outerchr11:1000998..1007194hg18UCSC Ensembl
Outerchr11:1000998..1007194hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388990
hg198990
hg188990
hg178990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7637
Supporting Variants
SamplesNA19240
Known GenesAP2A2, MUC6
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)nssv978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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