A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3105



Internal ID15547681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199475796..199507504hg38UCSC Ensembl
Outerchr2:200340519..200372227hg19UCSC Ensembl
Outerchr2:200048764..200080472hg18UCSC Ensembl
Outerchr2:200166025..200197733hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387798
hg197798
hg187798
hg177798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10261
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)nsv3105
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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