A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3946



Internal ID15538673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47636228..47649890hg38UCSC Ensembl
Outerchr11:47657780..47671442hg19UCSC Ensembl
Outerchr11:47614356..47628018hg18UCSC Ensembl
Outerchr11:47614356..47628018hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385392
hg195392
hg185392
hg175392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv315
Supporting Variants
SamplesNA12878
Known GenesMTCH2
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)nssv3946
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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