A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10367



Internal ID15195745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151423644..151432573hg38UCSC Ensembl
Outerchr3:151141432..151150361hg19UCSC Ensembl
Outerchr3:152624122..152633051hg18UCSC Ensembl
Outerchr3:152624130..152633059hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg388393
hg198393
hg188393
hg178393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4063
Supporting Variants
SamplesNA18956
Known GenesMED12L
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)nssv10367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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