A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv329



Internal ID15545081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132239334..132281090hg38UCSC Ensembl
Outerchr3:131958178..131999934hg19UCSC Ensembl
Outerchr3:133440868..133482624hg18UCSC Ensembl
Outerchr3:133440876..133482632hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3841757
hg1941757
hg1841757
hg1741757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4012
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)nssv329
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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