A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4679



Internal ID15196430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128651524..128683478hg38UCSC Ensembl
Outerchr3:128370367..128402321hg19UCSC Ensembl
Outerchr3:129853057..129885011hg18UCSC Ensembl
Outerchr3:129853065..129885019hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387325
hg197325
hg187325
hg177325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3994
Supporting Variants
SamplesNA19129
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)nssv4679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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