A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994



Internal ID15192035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118204437..118239426hg38UCSC Ensembl
Outerchr11:118075152..118110141hg19UCSC Ensembl
Outerchr11:117580362..117615351hg18UCSC Ensembl
Outerchr11:117580362..117615351hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384760
hg194760
hg184760
hg174760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511
Supporting Variants
SamplesNA12878
Known GenesAMICA1, MPZL3
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)nssv3994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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