A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2958



Internal ID15547521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:145934136..145968827hg38UCSC Ensembl
Outerchr2:146691704..146726395hg19UCSC Ensembl
Outerchr2:146408174..146442865hg18UCSC Ensembl
Outerchr2:146525436..146560127hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg385326
hg195326
hg185326
hg175326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3032
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)nsv2958
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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