A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3033



Internal ID15200916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172198556..172243858hg38UCSC Ensembl
Outerchr2:173063284..173108586hg19UCSC Ensembl
Outerchr2:172771530..172816832hg18UCSC Ensembl
Outerchr2:172888791..172934093hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3845303
hg1945303
hg1845303
hg1745303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7577
SamplesNA12156
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)nsv3033
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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