A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3081



Internal ID15547655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190596352..190626683hg38UCSC Ensembl
Outerchr2:191461078..191491409hg19UCSC Ensembl
Outerchr2:191169323..191199654hg18UCSC Ensembl
Outerchr2:191286584..191316915hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg386561
hg196561
hg186561
hg176561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3041
SamplesNA18555
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)nsv3081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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