A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv345



Internal ID15198472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:161136946..161169046hg38UCSC Ensembl
Outerchr3:160854734..160886834hg19UCSC Ensembl
Outerchr3:162337428..162369528hg18UCSC Ensembl
Outerchr3:162337436..162369536hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg388896
hg198896
hg188896
hg178896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4090
Supporting Variants
SamplesNA19240
Known Genes
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)nssv345
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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