A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2933



Internal ID15200810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:133248612..133282407hg38UCSC Ensembl
Outerchr2:134006184..134039979hg19UCSC Ensembl
Outerchr2:133722654..133756449hg18UCSC Ensembl
Outerchr2:133839916..133873711hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg385942
hg195942
hg185942
hg175942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4461
SamplesNA12878
Known GenesMIR7853, NCKAP5
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)nsv2933
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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