A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2852



Internal ID15200729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102062195..102100116hg38UCSC Ensembl
Outerchr2:102678656..102716576hg19UCSC Ensembl
Outerchr2:102045088..102083008hg18UCSC Ensembl
Outerchr2:102137174..102175094hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3837922
hg1937921
hg1837921
hg1737921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5810
SamplesNA19129
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)nsv2852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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