A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv343



Internal ID15198462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:154157713..154184960hg38UCSC Ensembl
Outerchr3:153875502..153902749hg19UCSC Ensembl
Outerchr3:155358192..155385439hg18UCSC Ensembl
Outerchr3:155358200..155385447hg17UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg386210
hg196210
hg186210
hg176210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4072
Supporting Variants
SamplesNA19240
Known GenesARHGEF26
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)nssv343
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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