A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv348



Internal ID15198486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172638465..172669092hg38UCSC Ensembl
Outerchr3:172356255..172386882hg19UCSC Ensembl
Outerchr3:173838949..173869576hg18UCSC Ensembl
Outerchr3:173838957..173869584hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3810369
hg1910369
hg1810369
hg1710369
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4118
Supporting Variants
SamplesNA19240
Known GenesNCEH1
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)nssv348
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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