A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3025



Internal ID15547593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169609193..169643885hg38UCSC Ensembl
Outerchr2:170465703..170500395hg19UCSC Ensembl
Outerchr2:170173949..170208641hg18UCSC Ensembl
Outerchr2:170291210..170325902hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3834693
hg1934693
hg1834693
hg1734693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7571
SamplesNA12156
Known GenesPPIG
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)nsv3025
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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