A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3083



Internal ID15200971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190880106..190914039hg38UCSC Ensembl
Outerchr2:191744832..191778765hg19UCSC Ensembl
Outerchr2:191453077..191487010hg18UCSC Ensembl
Outerchr2:191570338..191604271hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg385502
hg195502
hg185502
hg175502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7593
SamplesNA12156
Known GenesGLS
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)nsv3083
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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