A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3712



Internal ID15201663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14467853..14501724hg38UCSC Ensembl
Outerchr3:14509361..14543232hg19UCSC Ensembl
Outerchr3:14484365..14518236hg18UCSC Ensembl
Outerchr3:14484365..14518236hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg386121
hg196121
hg186121
hg176121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5944, nssv3088
SamplesNA18555, NA19129
Known GenesGRIP2, SLC6A6
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)nsv3712
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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