A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3093



Internal ID15547668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:195395801..195427912hg38UCSC Ensembl
Outerchr2:196260525..196292636hg19UCSC Ensembl
Outerchr2:195968770..196000881hg18UCSC Ensembl
Outerchr2:196086031..196118142hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg387394
hg197394
hg187394
hg177394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10257
SamplesNA18956
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)nsv3093
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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