A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv327



Internal ID15545071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130546002..130578255hg38UCSC Ensembl
Outerchr3:130264846..130297099hg19UCSC Ensembl
Outerchr3:131747536..131779789hg18UCSC Ensembl
Outerchr3:131747544..131779797hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg388739
hg198739
hg188739
hg178739
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4003
Supporting Variants
SamplesNA19240
Known GenesCOL6A6
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)nssv327
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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