A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211



Internal ID15201112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232515807..232527333hg38UCSC Ensembl
Outerchr2:233380517..233392043hg19UCSC Ensembl
Outerchr2:233088761..233100287hg18UCSC Ensembl
Outerchr2:233206022..233217548hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387326
hg197326
hg187326
hg177326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1577
SamplesNA19240
Known GenesCHRND, PRSS56
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)nsv3211
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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