A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212



Internal ID8514781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232526220..232564112hg38UCSC Ensembl
Outerchr2:233390930..233428822hg19UCSC Ensembl
Outerchr2:233099174..233137066hg18UCSC Ensembl
Outerchr2:233216435..233254327hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3837893
hg1937893
hg1837893
hg1737893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7630
SamplesNA12156
Known GenesCHRND, CHRNG, EIF4E2, MIR5001, TIGD1
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)nsv3212
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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