A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1395



Internal ID15544316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12489689..12493522hg38UCSC Ensembl
Outerchr18:12489688..12493521hg19UCSC Ensembl
Outerchr18:12479688..12483521hg18UCSC Ensembl
Outerchr18:12479688..12483521hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386154
hg196154
hg186154
hg176154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2207
Supporting Variants
SamplesNA19240
Known GenesSPIRE1
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)nssv1395
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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