A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3923



Internal ID15191964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19054970..19062271hg38UCSC Ensembl
Outerchr1:19381464..19388765hg19UCSC Ensembl
Outerchr1:19254051..19261352hg18UCSC Ensembl
Outerchr1:19126770..19134071hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384684
hg194684
hg184684
hg174684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5298
Supporting Variants
SamplesNA12878
Known Genes
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)nssv3923
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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