A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2586



Internal ID15547149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5481314..5517762hg38UCSC Ensembl
Outerchr2:5621446..5657894hg19UCSC Ensembl
Outerchr2:5538897..5575345hg18UCSC Ensembl
Outerchr2:5572044..5608492hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384696
hg194696
hg184696
hg174696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4391, nssv3007, nssv1475
SamplesNA12878, NA18555, NA19240
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)nsv2586
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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